SNP Links for Protein (Select 19923586) - SNP

Select item 14909814141.

rs1490981414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177211638 (GRCh38)
5:176638639 (GRCh37)
Canonical SPDI:: NC_000005.10:177211637:G:A
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177211638G>A, NC_000005.9:g.176638639G>A, NG_009821.1:g.83560G>A, NM_022455.5:c.3239G>A, NM_022455.4:c.3239G>A, NM_172349.5:c.2366G>A, NM_172349.4:c.2366G>A, NM_172349.3:c.2432G>A, NM_172349.2:c.2432G>A, NM_001365684.2:c.2366G>A, NM_001365684.1:c.2432G>A, NM_001409302.1:c.3239G>A, NM_001409301.1:c.3239G>A, NM_001409303.1:c.3239G>A, NM_001409304.1:c.2819G>A, NM_001409305.1:c.2486G>A, NM_001409307.1:c.2366G>A, NM_001409306.1:c.2366G>A, NM_001409308.1:c.2366G>A, NM_001409309.1:c.2366G>A, NP_071900.2:p.Gly1080Asp, NP_758859.1:p.Gly811Asp, NP_001352613.1:p.Gly811Asp

Select item 14882714242.

rs1488271424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177209978 (GRCh38)
5:176636979 (GRCh37)
Canonical SPDI:: NC_000005.10:177209977:G:A
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.177209978G>A, NC_000005.9:g.176636979G>A, NG_009821.1:g.81900G>A, NM_022455.5:c.1579G>A, NM_022455.4:c.1579G>A, NM_172349.5:c.706G>A, NM_172349.4:c.706G>A, NM_172349.3:c.772G>A, NM_172349.2:c.772G>A, NM_001365684.2:c.706G>A, NM_001365684.1:c.772G>A, NM_001409302.1:c.1579G>A, NM_001409301.1:c.1579G>A, NM_001409303.1:c.1579G>A, NM_001409304.1:c.1159G>A, NM_001409305.1:c.826G>A, NM_001409307.1:c.706G>A, NM_001409306.1:c.706G>A, NM_001409308.1:c.706G>A, NM_001409309.1:c.706G>A, NP_071900.2:p.Gly527Arg, NP_758859.1:p.Gly258Arg, NP_001352613.1:p.Gly258Arg

Select item 14878559873.

rs1487855987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177211742 (GRCh38)
5:176638743 (GRCh37)
Canonical SPDI:: NC_000005.10:177211741:A:G
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.177211742A>G, NC_000005.9:g.176638743A>G, NG_009821.1:g.83664A>G, NM_022455.5:c.3343A>G, NM_022455.4:c.3343A>G, NM_172349.5:c.2470A>G, NM_172349.4:c.2470A>G, NM_172349.3:c.2536A>G, NM_172349.2:c.2536A>G, NM_001365684.2:c.2470A>G, NM_001365684.1:c.2536A>G, NM_001409302.1:c.3343A>G, NM_001409301.1:c.3343A>G, NM_001409303.1:c.3343A>G, NM_001409304.1:c.2923A>G, NM_001409305.1:c.2590A>G, NM_001409307.1:c.2470A>G, NM_001409306.1:c.2470A>G, NM_001409308.1:c.2470A>G, NM_001409309.1:c.2470A>G, NP_071900.2:p.Lys1115Glu, NP_758859.1:p.Lys846Glu, NP_001352613.1:p.Lys846Glu

Select item 14873455484.

rs1487345548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177291986 (GRCh38)
5:176718987 (GRCh37)
Canonical SPDI:: NC_000005.10:177291985:G:A
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.177291986G>A, NC_000005.9:g.176718987G>A, NG_009821.1:g.163908G>A, NM_022455.5:c.6291G>A, NM_022455.4:c.6291G>A, NM_172349.5:c.5418G>A, NM_172349.4:c.5418G>A, NM_172349.3:c.5484G>A, NM_172349.2:c.5484G>A, NM_001365684.2:c.5418G>A, NM_001365684.1:c.5484G>A, NM_001409302.1:c.6291G>A, NM_001409301.1:c.6291G>A, NM_001409303.1:c.6291G>A, NM_001409304.1:c.5871G>A, NM_001409305.1:c.5538G>A, NM_001409307.1:c.5529G>A, NM_001409306.1:c.5529G>A, NM_001409308.1:c.5418G>A, NM_001409309.1:c.5169G>A

Select item 14866178085.

rs1486617808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177209916 (GRCh38)
5:176636917 (GRCh37)
Canonical SPDI:: NC_000005.10:177209915:C:T
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.177209916C>T, NC_000005.9:g.176636917C>T, NG_009821.1:g.81838C>T, NM_022455.5:c.1517C>T, NM_022455.4:c.1517C>T, NM_172349.5:c.644C>T, NM_172349.4:c.644C>T, NM_172349.3:c.710C>T, NM_172349.2:c.710C>T, NM_001365684.2:c.644C>T, NM_001365684.1:c.710C>T, NM_001409302.1:c.1517C>T, NM_001409301.1:c.1517C>T, NM_001409303.1:c.1517C>T, NM_001409304.1:c.1097C>T, NM_001409305.1:c.764C>T, NM_001409307.1:c.644C>T, NM_001409306.1:c.644C>T, NM_001409308.1:c.644C>T, NM_001409309.1:c.644C>T, NP_071900.2:p.Pro506Leu, NP_758859.1:p.Pro237Leu, NP_001352613.1:p.Pro237Leu

Select item 14861572916.

rs1486157291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177210156 (GRCh38)
5:176637157 (GRCh37)
Canonical SPDI:: NC_000005.10:177210155:A:G
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177210156A>G, NC_000005.9:g.176637157A>G, NG_009821.1:g.82078A>G, NM_022455.5:c.1757A>G, NM_022455.4:c.1757A>G, NM_172349.5:c.884A>G, NM_172349.4:c.884A>G, NM_172349.3:c.950A>G, NM_172349.2:c.950A>G, NM_001365684.2:c.884A>G, NM_001365684.1:c.950A>G, NM_001409302.1:c.1757A>G, NM_001409301.1:c.1757A>G, NM_001409303.1:c.1757A>G, NM_001409304.1:c.1337A>G, NM_001409305.1:c.1004A>G, NM_001409307.1:c.884A>G, NM_001409306.1:c.884A>G, NM_001409308.1:c.884A>G, NM_001409309.1:c.884A>G, NP_071900.2:p.Asn586Ser, NP_758859.1:p.Asn317Ser, NP_001352613.1:p.Asn317Ser

Select item 14860291517.

rs1486029151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:177294270 (GRCh38)
5:176721271 (GRCh37)
Canonical SPDI:: NC_000005.10:177294269:G:A,NC_000005.10:177294269:G:C
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177294270G>A, NC_000005.10:g.177294270G>C, NC_000005.9:g.176721271G>A, NC_000005.9:g.176721271G>C, NG_009821.1:g.166192G>A, NG_009821.1:g.166192G>C, NM_022455.5:c.6902G>A, NM_022455.5:c.6902G>C, NM_022455.4:c.6902G>A, NM_022455.4:c.6902G>C, NM_172349.5:c.6029G>A, NM_172349.5:c.6029G>C, NM_172349.4:c.6029G>A, NM_172349.4:c.6029G>C, NM_172349.3:c.6095G>A, NM_172349.3:c.6095G>C, NM_172349.2:c.6095G>A, NM_172349.2:c.6095G>C, NM_001365684.2:c.6029G>A, NM_001365684.2:c.6029G>C, NM_001365684.1:c.6095G>A, NM_001365684.1:c.6095G>C, NM_001409302.1:c.6902G>A, NM_001409302.1:c.6902G>C, NM_001409301.1:c.6902G>A, NM_001409301.1:c.6902G>C, NM_001409303.1:c.6902G>A, NM_001409303.1:c.6902G>C, NM_001409304.1:c.6482G>A, NM_001409304.1:c.6482G>C, NM_001409305.1:c.6149G>A, NM_001409305.1:c.6149G>C, NM_001409307.1:c.6140G>A, NM_001409307.1:c.6140G>C, NM_001409306.1:c.6140G>A, NM_001409306.1:c.6140G>C, NM_001409308.1:c.6029G>A, NM_001409308.1:c.6029G>C, NM_001409309.1:c.5780G>A, NM_001409309.1:c.5780G>C, NP_071900.2:p.Gly2301Glu, NP_071900.2:p.Gly2301Ala, NP_758859.1:p.Gly2032Glu, NP_758859.1:p.Gly2032Ala, NP_001352613.1:p.Gly2032Glu, NP_001352613.1:p.Gly2032Ala

Select item 14858142658.

rs1485814265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177209738 (GRCh38)
5:176636739 (GRCh37)
Canonical SPDI:: NC_000005.10:177209737:A:G
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177209738A>G, NC_000005.9:g.176636739A>G, NG_009821.1:g.81660A>G, NM_022455.5:c.1339A>G, NM_022455.4:c.1339A>G, NM_172349.5:c.466A>G, NM_172349.4:c.466A>G, NM_172349.3:c.532A>G, NM_172349.2:c.532A>G, NM_001365684.2:c.466A>G, NM_001365684.1:c.532A>G, NM_001409302.1:c.1339A>G, NM_001409301.1:c.1339A>G, NM_001409303.1:c.1339A>G, NM_001409304.1:c.919A>G, NM_001409305.1:c.586A>G, NM_001409307.1:c.466A>G, NM_001409306.1:c.466A>G, NM_001409308.1:c.466A>G, NM_001409309.1:c.466A>G, NP_071900.2:p.Ile447Val, NP_758859.1:p.Ile178Val, NP_001352613.1:p.Ile178Val

Select item 14850582029.

rs1485058202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177211562 (GRCh38)
5:176638563 (GRCh37)
Canonical SPDI:: NC_000005.10:177211561:A:G
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177211562A>G, NC_000005.9:g.176638563A>G, NG_009821.1:g.83484A>G, NM_022455.5:c.3163A>G, NM_022455.4:c.3163A>G, NM_172349.5:c.2290A>G, NM_172349.4:c.2290A>G, NM_172349.3:c.2356A>G, NM_172349.2:c.2356A>G, NM_001365684.2:c.2290A>G, NM_001365684.1:c.2356A>G, NM_001409302.1:c.3163A>G, NM_001409301.1:c.3163A>G, NM_001409303.1:c.3163A>G, NM_001409304.1:c.2743A>G, NM_001409305.1:c.2410A>G, NM_001409307.1:c.2290A>G, NM_001409306.1:c.2290A>G, NM_001409308.1:c.2290A>G, NM_001409309.1:c.2290A>G, NP_071900.2:p.Lys1055Glu, NP_758859.1:p.Lys786Glu, NP_001352613.1:p.Lys786Glu

Select item 148442458810.

rs1484424588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177282515 (GRCh38)
5:176709516 (GRCh37)
Canonical SPDI:: NC_000005.10:177282514:C:T
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177282515C>T, NC_000005.9:g.176709516C>T, NG_009821.1:g.154437C>T, NM_022455.5:c.5943C>T, NM_022455.4:c.5943C>T, NM_172349.5:c.5070C>T, NM_172349.4:c.5070C>T, NM_172349.3:c.5136C>T, NM_172349.2:c.5136C>T, NM_001365684.2:c.5070C>T, NM_001365684.1:c.5136C>T, NM_001409302.1:c.5943C>T, NM_001409301.1:c.5943C>T, NM_001409303.1:c.5943C>T, NM_001409304.1:c.5523C>T, NM_001409305.1:c.5190C>T, NM_001409307.1:c.5181C>T, NM_001409306.1:c.5181C>T, NM_001409308.1:c.5070C>T, NM_001409309.1:c.5070C>T

Select item 148362050411.

rs1483620504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177273730 (GRCh38)
5:176700731 (GRCh37)
Canonical SPDI:: NC_000005.10:177273729:G:A
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177273730G>A, NC_000005.9:g.176700731G>A, NG_009821.1:g.145652G>A, NM_022455.5:c.5568G>A, NM_022455.4:c.5568G>A, NM_172349.5:c.4695G>A, NM_172349.4:c.4695G>A, NM_172349.3:c.4761G>A, NM_172349.2:c.4761G>A, NM_001365684.2:c.4695G>A, NM_001365684.1:c.4761G>A, NM_001409302.1:c.5568G>A, NM_001409301.1:c.5568G>A, NM_001409303.1:c.5568G>A, NM_001409304.1:c.5148G>A, NM_001409305.1:c.4815G>A, NM_001409307.1:c.4806G>A, NM_001409306.1:c.4806G>A, NM_001409308.1:c.4695G>A, NM_001409309.1:c.4695G>A

Select item 148245293212.

rs1482452932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177294082 (GRCh38)
5:176721083 (GRCh37)
Canonical SPDI:: NC_000005.10:177294081:G:A
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177294082G>A, NC_000005.9:g.176721083G>A, NG_009821.1:g.166004G>A, NM_022455.5:c.6714G>A, NM_022455.4:c.6714G>A, NM_172349.5:c.5841G>A, NM_172349.4:c.5841G>A, NM_172349.3:c.5907G>A, NM_172349.2:c.5907G>A, NM_001365684.2:c.5841G>A, NM_001365684.1:c.5907G>A, NM_001409302.1:c.6714G>A, NM_001409301.1:c.6714G>A, NM_001409303.1:c.6714G>A, NM_001409304.1:c.6294G>A, NM_001409305.1:c.5961G>A, NM_001409307.1:c.5952G>A, NM_001409306.1:c.5952G>A, NM_001409308.1:c.5841G>A, NM_001409309.1:c.5592G>A

Select item 148231817513.

rs1482318175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:177248281 (GRCh38)
5:176675282 (GRCh37)
Canonical SPDI:: NC_000005.10:177248280:G:A,NC_000005.10:177248280:G:T
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177248281G>A, NC_000005.10:g.177248281G>T, NC_000005.9:g.176675282G>A, NC_000005.9:g.176675282G>T, NG_009821.1:g.120203G>A, NG_009821.1:g.120203G>T, NM_022455.5:c.4598G>A, NM_022455.5:c.4598G>T, NM_022455.4:c.4598G>A, NM_022455.4:c.4598G>T, NM_172349.5:c.3725G>A, NM_172349.5:c.3725G>T, NM_172349.4:c.3725G>A, NM_172349.4:c.3725G>T, NM_172349.3:c.3791G>A, NM_172349.3:c.3791G>T, NM_172349.2:c.3791G>A, NM_172349.2:c.3791G>T, NM_001365684.2:c.3725G>A, NM_001365684.2:c.3725G>T, NM_001365684.1:c.3791G>A, NM_001365684.1:c.3791G>T, NM_001409302.1:c.4598G>A, NM_001409302.1:c.4598G>T, NM_001409301.1:c.4598G>A, NM_001409301.1:c.4598G>T, NM_001409303.1:c.4598G>A, NM_001409303.1:c.4598G>T, NM_001409304.1:c.4178G>A, NM_001409304.1:c.4178G>T, NM_001409305.1:c.3845G>A, NM_001409305.1:c.3845G>T, NM_001409307.1:c.3725G>A, NM_001409307.1:c.3725G>T, NM_001409306.1:c.3725G>A, NM_001409306.1:c.3725G>T, NM_001409308.1:c.3725G>A, NM_001409308.1:c.3725G>T, NM_001409309.1:c.3725G>A, NM_001409309.1:c.3725G>T, NP_071900.2:p.Gly1533Asp, NP_071900.2:p.Gly1533Val, NP_758859.1:p.Gly1264Asp, NP_758859.1:p.Gly1264Val, NP_001352613.1:p.Gly1264Asp, NP_001352613.1:p.Gly1264Val

Select item 148113606014.

rs1481136060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:177210293 (GRCh38)
5:176637294 (GRCh37)
Canonical SPDI:: NC_000005.10:177210292:C:A,NC_000005.10:177210292:C:G,NC_000005.10:177210292:C:T
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,stop_gained,coding_sequence_variant
Clinical significance:: pathogenic,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177210293C>A, NC_000005.10:g.177210293C>G, NC_000005.10:g.177210293C>T, NC_000005.9:g.176637294C>A, NC_000005.9:g.176637294C>G, NC_000005.9:g.176637294C>T, NG_009821.1:g.82215C>A, NG_009821.1:g.82215C>G, NG_009821.1:g.82215C>T, NM_022455.5:c.1894C>A, NM_022455.5:c.1894C>G, NM_022455.5:c.1894C>T, NM_022455.4:c.1894C>A, NM_022455.4:c.1894C>G, NM_022455.4:c.1894C>T, NM_172349.5:c.1021C>A, NM_172349.5:c.1021C>G, NM_172349.5:c.1021C>T, NM_172349.4:c.1021C>A, NM_172349.4:c.1021C>G, NM_172349.4:c.1021C>T, NM_172349.3:c.1087C>A, NM_172349.3:c.1087C>G, NM_172349.3:c.1087C>T, NM_172349.2:c.1087C>A, NM_172349.2:c.1087C>G, NM_172349.2:c.1087C>T, NM_001365684.2:c.1021C>A, NM_001365684.2:c.1021C>G, NM_001365684.2:c.1021C>T, NM_001365684.1:c.1087C>A, NM_001365684.1:c.1087C>G, NM_001365684.1:c.1087C>T, NM_001409302.1:c.1894C>A, NM_001409302.1:c.1894C>G, NM_001409302.1:c.1894C>T, NM_001409301.1:c.1894C>A, NM_001409301.1:c.1894C>G, NM_001409301.1:c.1894C>T, NM_001409303.1:c.1894C>A, NM_001409303.1:c.1894C>G, NM_001409303.1:c.1894C>T, NM_001409304.1:c.1474C>A, NM_001409304.1:c.1474C>G, NM_001409304.1:c.1474C>T, NM_001409305.1:c.1141C>A, NM_001409305.1:c.1141C>G, NM_001409305.1:c.1141C>T, NM_001409307.1:c.1021C>A, NM_001409307.1:c.1021C>G, NM_001409307.1:c.1021C>T, NM_001409306.1:c.1021C>A, NM_001409306.1:c.1021C>G, NM_001409306.1:c.1021C>T, NM_001409308.1:c.1021C>A, NM_001409308.1:c.1021C>G, NM_001409308.1:c.1021C>T, NM_001409309.1:c.1021C>A, NM_001409309.1:c.1021C>G, NM_001409309.1:c.1021C>T, NP_071900.2:p.Arg632Gly, NP_071900.2:p.Arg632Ter, NP_758859.1:p.Arg363Gly, NP_758859.1:p.Arg363Ter, NP_001352613.1:p.Arg363Gly, NP_001352613.1:p.Arg363Ter

Select item 148088201215.

rs1480882012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:177294754 (GRCh38)
5:176721755 (GRCh37)
Canonical SPDI:: NC_000005.10:177294753:T:A,NC_000005.10:177294753:T:C
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.177294754T>A, NC_000005.10:g.177294754T>C, NC_000005.9:g.176721755T>A, NC_000005.9:g.176721755T>C, NG_009821.1:g.166676T>A, NG_009821.1:g.166676T>C, NM_022455.5:c.7386T>A, NM_022455.5:c.7386T>C, NM_022455.4:c.7386T>A, NM_022455.4:c.7386T>C, NM_172349.5:c.6513T>A, NM_172349.5:c.6513T>C, NM_172349.4:c.6513T>A, NM_172349.4:c.6513T>C, NM_172349.3:c.6579T>A, NM_172349.3:c.6579T>C, NM_172349.2:c.6579T>A, NM_172349.2:c.6579T>C, NM_001365684.2:c.6513T>A, NM_001365684.2:c.6513T>C, NM_001365684.1:c.6579T>A, NM_001365684.1:c.6579T>C, NM_001409302.1:c.7386T>A, NM_001409302.1:c.7386T>C, NM_001409301.1:c.7386T>A, NM_001409301.1:c.7386T>C, NM_001409303.1:c.7386T>A, NM_001409303.1:c.7386T>C, NM_001409304.1:c.6966T>A, NM_001409304.1:c.6966T>C, NM_001409305.1:c.6633T>A, NM_001409305.1:c.6633T>C, NM_001409307.1:c.6624T>A, NM_001409307.1:c.6624T>C, NM_001409306.1:c.6624T>A, NM_001409306.1:c.6624T>C, NM_001409308.1:c.6513T>A, NM_001409308.1:c.6513T>C, NM_001409309.1:c.6264T>A, NM_001409309.1:c.6264T>C

Select item 147913609616.

rs1479136096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:177210127 (GRCh38)
5:176637128 (GRCh37)
Canonical SPDI:: NC_000005.10:177210126:C:A,NC_000005.10:177210126:C:T
Gene:: NSD1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177210127C>A, NC_000005.10:g.177210127C>T, NC_000005.9:g.176637128C>A, NC_000005.9:g.176637128C>T, NG_009821.1:g.82049C>A, NG_009821.1:g.82049C>T, NM_022455.5:c.1728C>A, NM_022455.5:c.1728C>T, NM_022455.4:c.1728C>A, NM_022455.4:c.1728C>T, NM_172349.5:c.855C>A, NM_172349.5:c.855C>T, NM_172349.4:c.855C>A, NM_172349.4:c.855C>T, NM_172349.3:c.921C>A, NM_172349.3:c.921C>T, NM_172349.2:c.921C>A, NM_172349.2:c.921C>T, NM_001365684.2:c.855C>A, NM_001365684.2:c.855C>T, NM_001365684.1:c.921C>A, NM_001365684.1:c.921C>T, NM_001409302.1:c.1728C>A, NM_001409302.1:c.1728C>T, NM_001409301.1:c.1728C>A, NM_001409301.1:c.1728C>T, NM_001409303.1:c.1728C>A, NM_001409303.1:c.1728C>T, NM_001409304.1:c.1308C>A, NM_001409304.1:c.1308C>T, NM_001409305.1:c.975C>A, NM_001409305.1:c.975C>T, NM_001409307.1:c.855C>A, NM_001409307.1:c.855C>T, NM_001409306.1:c.855C>A, NM_001409306.1:c.855C>T, NM_001409308.1:c.855C>A, NM_001409308.1:c.855C>T, NM_001409309.1:c.855C>A, NM_001409309.1:c.855C>T, NP_071900.2:p.Asn576Lys, NP_758859.1:p.Asn307Lys, NP_001352613.1:p.Asn307Lys

Select item 147903159917.

rs1479031599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177135306 (GRCh38)
5:176562307 (GRCh37)
Canonical SPDI:: NC_000005.10:177135305:G:C
Gene:: NSD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177135306G>C, NC_000005.9:g.176562307G>C, NG_009821.1:g.7228G>C, NM_022455.5:c.203G>C, NM_022455.4:c.203G>C, NM_001409302.1:c.203G>C, NM_001409301.1:c.203G>C, NM_001409303.1:c.203G>C, NM_001409304.1:c.203G>C, NP_071900.2:p.Cys68Ser

Select item 147830186018.

rs1478301860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:177211185 (GRCh38)
5:176638186 (GRCh37)
Canonical SPDI:: NC_000005.10:177211184:C:A,NC_000005.10:177211184:C:T
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177211185C>A, NC_000005.10:g.177211185C>T, NC_000005.9:g.176638186C>A, NC_000005.9:g.176638186C>T, NG_009821.1:g.83107C>A, NG_009821.1:g.83107C>T, NM_022455.5:c.2786C>A, NM_022455.5:c.2786C>T, NM_022455.4:c.2786C>A, NM_022455.4:c.2786C>T, NM_172349.5:c.1913C>A, NM_172349.5:c.1913C>T, NM_172349.4:c.1913C>A, NM_172349.4:c.1913C>T, NM_172349.3:c.1979C>A, NM_172349.3:c.1979C>T, NM_172349.2:c.1979C>A, NM_172349.2:c.1979C>T, NM_001365684.2:c.1913C>A, NM_001365684.2:c.1913C>T, NM_001365684.1:c.1979C>A, NM_001365684.1:c.1979C>T, NM_001409302.1:c.2786C>A, NM_001409302.1:c.2786C>T, NM_001409301.1:c.2786C>A, NM_001409301.1:c.2786C>T, NM_001409303.1:c.2786C>A, NM_001409303.1:c.2786C>T, NM_001409304.1:c.2366C>A, NM_001409304.1:c.2366C>T, NM_001409305.1:c.2033C>A, NM_001409305.1:c.2033C>T, NM_001409307.1:c.1913C>A, NM_001409307.1:c.1913C>T, NM_001409306.1:c.1913C>A, NM_001409306.1:c.1913C>T, NM_001409308.1:c.1913C>A, NM_001409308.1:c.1913C>T, NM_001409309.1:c.1913C>A, NM_001409309.1:c.1913C>T, NP_071900.2:p.Thr929Asn, NP_071900.2:p.Thr929Ile, NP_758859.1:p.Thr660Asn, NP_758859.1:p.Thr660Ile, NP_001352613.1:p.Thr660Asn, NP_001352613.1:p.Thr660Ile

Select item 147685300419.

rs1476853004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177244195 (GRCh38)
5:176671196 (GRCh37)
Canonical SPDI:: NC_000005.10:177244194:T:C
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177244195T>C, NC_000005.9:g.176671196T>C, NG_009821.1:g.116117T>C, NM_022455.5:c.4303T>C, NM_022455.4:c.4303T>C, NM_172349.5:c.3430T>C, NM_172349.4:c.3430T>C, NM_172349.3:c.3496T>C, NM_172349.2:c.3496T>C, NM_001365684.2:c.3430T>C, NM_001365684.1:c.3496T>C, NM_001409302.1:c.4303T>C, NM_001409301.1:c.4303T>C, NM_001409303.1:c.4303T>C, NM_001409304.1:c.3883T>C, NM_001409305.1:c.3550T>C, NM_001409307.1:c.3430T>C, NM_001409306.1:c.3430T>C, NM_001409308.1:c.3430T>C, NM_001409309.1:c.3430T>C, NP_071900.2:p.Cys1435Arg, NP_758859.1:p.Cys1166Arg, NP_001352613.1:p.Cys1166Arg

Select item 147634139220.

rs1476341392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177211833 (GRCh38)
5:176638834 (GRCh37)
Canonical SPDI:: NC_000005.10:177211832:A:G
Gene:: NSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177211833A>G, NC_000005.9:g.176638834A>G, NG_009821.1:g.83755A>G, NM_022455.5:c.3434A>G, NM_022455.4:c.3434A>G, NM_172349.5:c.2561A>G, NM_172349.4:c.2561A>G, NM_172349.3:c.2627A>G, NM_172349.2:c.2627A>G, NM_001365684.2:c.2561A>G, NM_001365684.1:c.2627A>G, NM_001409302.1:c.3434A>G, NM_001409301.1:c.3434A>G, NM_001409303.1:c.3434A>G, NM_001409304.1:c.3014A>G, NM_001409305.1:c.2681A>G, NM_001409307.1:c.2561A>G, NM_001409306.1:c.2561A>G, NM_001409308.1:c.2561A>G, NM_001409309.1:c.2561A>G, NP_071900.2:p.Asn1145Ser, NP_758859.1:p.Asn876Ser, NP_001352613.1:p.Asn876Ser

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