SNP Links for Protein (Select 332164791) - SNP

Links from Protein

Items: 1 to 20 of 244

<< First< Prev

Page of 13

Next >Last >>

Select item 14889677641.

rs1488967764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24077706 (GRCh38)
2:24300576 (GRCh37)
Canonical SPDI:: NC_000002.12:24077705:G:A
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.24077706G>A, NC_000002.11:g.24300576G>A, NG_029715.1:g.12510C>T, NM_004881.5:c.872C>T, NM_004881.4:c.872C>T, NM_147184.4:c.872C>T, NM_147184.3:c.872C>T, NM_001206802.2:c.675C>T, XM_006712150.3:c.675C>T, XM_006712150.2:c.675C>T, XM_006712150.1:c.675C>T, XM_024453249.2:c.605C>T, XM_024453249.1:c.605C>T, NP_004872.2:p.Thr291Met, NP_671713.1:p.Thr291Met, XP_024309017.1:p.Thr202Met

Select item 14834431882.

rs1483443188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24080878 (GRCh38)
2:24303748 (GRCh37)
Canonical SPDI:: NC_000002.12:24080877:G:A
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24080878G>A, NC_000002.11:g.24303748G>A, NG_029715.1:g.9338C>T, NM_004881.5:c.560C>T, NM_004881.4:c.560C>T, NM_147184.4:c.560C>T, NM_147184.3:c.560C>T, NM_001206802.2:c.560C>T, XM_006712150.3:c.560C>T, XM_006712150.2:c.560C>T, XM_006712150.1:c.560C>T, NM_001291328.2:c.-287G>A, NM_001291328.1:c.-287G>A, XM_024453249.2:c.293C>T, XM_024453249.1:c.293C>T, NP_004872.2:p.Ala187Val, NP_671713.1:p.Ala187Val, NP_001193731.1:p.Ala187Val, XP_006712213.1:p.Ala187Val, XP_024309017.1:p.Ala98Val

Select item 14804024783.

rs1480402478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24083098 (GRCh38)
2:24305968 (GRCh37)
Canonical SPDI:: NC_000002.12:24083097:C:T
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24083098C>T, NC_000002.11:g.24305968C>T, NG_029715.1:g.7118G>A, NM_004881.5:c.193G>A, NM_004881.4:c.193G>A, NM_147184.4:c.193G>A, NM_147184.3:c.193G>A, NM_001206802.2:c.193G>A, XM_006712150.3:c.193G>A, XM_006712150.2:c.193G>A, XM_006712150.1:c.193G>A, XM_024453249.2:c.42G>A, XM_024453249.1:c.42G>A, NP_004872.2:p.Ala65Thr, NP_671713.1:p.Ala65Thr, NP_001193731.1:p.Ala65Thr, XP_006712213.1:p.Ala65Thr

Select item 14709500374.

rs1470950037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24084212 (GRCh38)
2:24307082 (GRCh37)
Canonical SPDI:: NC_000002.12:24084211:G:A
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24084212G>A, NC_000002.11:g.24307082G>A, NG_029715.1:g.6004C>T, NM_004881.5:c.115C>T, NM_004881.4:c.115C>T, NM_147184.4:c.115C>T, NM_147184.3:c.115C>T, NM_001206802.2:c.115C>T, XM_006712150.3:c.115C>T, XM_006712150.2:c.115C>T, XM_006712150.1:c.115C>T

Select item 14704460195.

rs1470446019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24077701 (GRCh38)
2:24300571 (GRCh37)
Canonical SPDI:: NC_000002.12:24077700:C:T
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24077701C>T, NC_000002.11:g.24300571C>T, NG_029715.1:g.12515G>A, NM_004881.5:c.877G>A, NM_004881.4:c.877G>A, NM_147184.4:c.877G>A, NM_147184.3:c.877G>A, NM_001206802.2:c.680G>A, XM_006712150.3:c.680G>A, XM_006712150.2:c.680G>A, XM_006712150.1:c.680G>A, XM_024453249.2:c.610G>A, XM_024453249.1:c.610G>A, NP_004872.2:p.Gly293Ser, NP_671713.1:p.Gly293Ser, NP_001193731.1:p.Gly227Glu, XP_006712213.1:p.Gly227Glu, XP_024309017.1:p.Gly204Ser

Select item 14647484316.

rs1464748431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:24077680 (GRCh38)
2:24300550 (GRCh37)
Canonical SPDI:: NC_000002.12:24077679:C:G
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.24077680C>G, NC_000002.11:g.24300550C>G, NG_029715.1:g.12536G>C, NM_004881.5:c.898G>C, NM_004881.4:c.898G>C, NM_147184.4:c.898G>C, NM_147184.3:c.898G>C, NM_001206802.2:c.701G>C, XM_006712150.3:c.701G>C, XM_006712150.2:c.701G>C, XM_006712150.1:c.701G>C, XM_024453249.2:c.631G>C, XM_024453249.1:c.631G>C, NP_004872.2:p.Val300Leu, NP_671713.1:p.Val300Leu, NP_001193731.1:p.Gly234Ala, XP_006712213.1:p.Gly234Ala, XP_024309017.1:p.Val211Leu

Select item 14630507747.

rs1463050774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:24084190 (GRCh38)
2:24307060 (GRCh37)
Canonical SPDI:: NC_000002.12:24084189:T:C
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.24084190T>C, NC_000002.11:g.24307060T>C, NG_029715.1:g.6026A>G, NM_004881.5:c.137A>G, NM_004881.4:c.137A>G, NM_147184.4:c.137A>G, NM_147184.3:c.137A>G, NM_001206802.2:c.137A>G, XM_006712150.3:c.137A>G, XM_006712150.2:c.137A>G, XM_006712150.1:c.137A>G, NP_004872.2:p.Gln46Arg, NP_671713.1:p.Gln46Arg, NP_001193731.1:p.Gln46Arg, XP_006712213.1:p.Gln46Arg

Select item 14617157828.

rs1461715782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24082931 (GRCh38)
2:24305801 (GRCh37)
Canonical SPDI:: NC_000002.12:24082930:G:A
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24082931G>A, NC_000002.11:g.24305801G>A, NG_029715.1:g.7285C>T, NM_004881.5:c.360C>T, NM_004881.4:c.360C>T, NM_147184.4:c.360C>T, NM_147184.3:c.360C>T, NM_001206802.2:c.360C>T, XM_006712150.3:c.360C>T, XM_006712150.2:c.360C>T, XM_006712150.1:c.360C>T

Select item 14570222529.

rs1457022252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:24077685 (GRCh38)
2:24300555 (GRCh37)
Canonical SPDI:: NC_000002.12:24077684:A:G
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.24077685A>G, NC_000002.11:g.24300555A>G, NG_029715.1:g.12531T>C, NM_004881.5:c.893T>C, NM_004881.4:c.893T>C, NM_147184.4:c.893T>C, NM_147184.3:c.893T>C, NM_001206802.2:c.696T>C, XM_006712150.3:c.696T>C, XM_006712150.2:c.696T>C, XM_006712150.1:c.696T>C, XM_024453249.2:c.626T>C, XM_024453249.1:c.626T>C, NP_004872.2:p.Leu298Pro, NP_671713.1:p.Leu298Pro, XP_024309017.1:p.Leu209Pro

Select item 145375141010.

rs1453751410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24082963 (GRCh38)
2:24305833 (GRCh37)
Canonical SPDI:: NC_000002.12:24082962:G:C
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24082963G>C, NC_000002.11:g.24305833G>C, NG_029715.1:g.7253C>G, NM_004881.5:c.328C>G, NM_004881.4:c.328C>G, NM_147184.4:c.328C>G, NM_147184.3:c.328C>G, NM_001206802.2:c.328C>G, XM_006712150.3:c.328C>G, XM_006712150.2:c.328C>G, XM_006712150.1:c.328C>G, NP_004872.2:p.Pro110Ala, NP_671713.1:p.Pro110Ala, NP_001193731.1:p.Pro110Ala, XP_006712213.1:p.Pro110Ala

Select item 145292534111.

rs1452925341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24084314 (GRCh38)
2:24307184 (GRCh37)
Canonical SPDI:: NC_000002.12:24084313:G:A
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24084314G>A, NC_000002.11:g.24307184G>A, NG_029715.1:g.5902C>T, NM_004881.5:c.13C>T, NM_004881.4:c.13C>T, NM_147184.4:c.13C>T, NM_147184.3:c.13C>T, NM_001206802.2:c.13C>T, XM_006712150.3:c.13C>T, XM_006712150.2:c.13C>T, XM_006712150.1:c.13C>T, NP_004872.2:p.His5Tyr, NP_671713.1:p.His5Tyr, NP_001193731.1:p.His5Tyr, XP_006712213.1:p.His5Tyr

Select item 144838085512.

rs1448380855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24084266 (GRCh38)
2:24307136 (GRCh37)
Canonical SPDI:: NC_000002.12:24084265:C:T
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24084266C>T, NC_000002.11:g.24307136C>T, NG_029715.1:g.5950G>A, NM_004881.5:c.61G>A, NM_004881.4:c.61G>A, NM_147184.4:c.61G>A, NM_147184.3:c.61G>A, NM_001206802.2:c.61G>A, XM_006712150.3:c.61G>A, XM_006712150.2:c.61G>A, XM_006712150.1:c.61G>A, NP_004872.2:p.Ala21Thr, NP_671713.1:p.Ala21Thr, NP_001193731.1:p.Ala21Thr, XP_006712213.1:p.Ala21Thr

Select item 144751500313.

rs1447515003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:24083138 (GRCh38)
2:24306008 (GRCh37)
Canonical SPDI:: NC_000002.12:24083137:A:C
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,missense_variant,initiator_codon_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24083138A>C, NC_000002.11:g.24306008A>C, NG_029715.1:g.7078T>G, NM_004881.5:c.153T>G, NM_004881.4:c.153T>G, NM_147184.4:c.153T>G, NM_147184.3:c.153T>G, NM_001206802.2:c.153T>G, XM_006712150.3:c.153T>G, XM_006712150.2:c.153T>G, XM_006712150.1:c.153T>G, XM_024453249.2:c.2T>G, XM_024453249.1:c.2T>G, NP_004872.2:p.Tyr51Ter, NP_671713.1:p.Tyr51Ter, NP_001193731.1:p.Tyr51Ter, XP_006712213.1:p.Tyr51Ter, XP_024309017.1:p.Met1Arg

Select item 143591158414.

rs1435911584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:24080997 (GRCh38)
2:24303867 (GRCh37)
Canonical SPDI:: NC_000002.12:24080996:A:G
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000036/9 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24080997A>G, NC_000002.11:g.24303867A>G, NG_029715.1:g.9219T>C, NM_004881.5:c.441T>C, NM_004881.4:c.441T>C, NM_147184.4:c.441T>C, NM_147184.3:c.441T>C, NM_001206802.2:c.441T>C, XM_006712150.3:c.441T>C, XM_006712150.2:c.441T>C, XM_006712150.1:c.441T>C, XM_024453249.2:c.174T>C, XM_024453249.1:c.174T>C

Select item 143488321715.

rs1434883217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:24083061 (GRCh38)
2:24305931 (GRCh37)
Canonical SPDI:: NC_000002.12:24083060:T:C
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24083061T>C, NC_000002.11:g.24305931T>C, NG_029715.1:g.7155A>G, NM_004881.5:c.230A>G, NM_004881.4:c.230A>G, NM_147184.4:c.230A>G, NM_147184.3:c.230A>G, NM_001206802.2:c.230A>G, XM_006712150.3:c.230A>G, XM_006712150.2:c.230A>G, XM_006712150.1:c.230A>G, XM_024453249.2:c.79A>G, XM_024453249.1:c.79A>G, NP_004872.2:p.Gln77Arg, NP_671713.1:p.Gln77Arg, NP_001193731.1:p.Gln77Arg, XP_006712213.1:p.Gln77Arg, XP_024309017.1:p.Arg27Gly

Select item 142883077016.

rs1428830770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:24082953 (GRCh38)
2:24305823 (GRCh37)
Canonical SPDI:: NC_000002.12:24082952:A:G,NC_000002.12:24082952:A:T
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24082953A>G, NC_000002.12:g.24082953A>T, NC_000002.11:g.24305823A>G, NC_000002.11:g.24305823A>T, NG_029715.1:g.7263T>C, NG_029715.1:g.7263T>A, NM_004881.5:c.338T>C, NM_004881.5:c.338T>A, NM_004881.4:c.338T>C, NM_004881.4:c.338T>A, NM_147184.4:c.338T>C, NM_147184.4:c.338T>A, NM_147184.3:c.338T>C, NM_147184.3:c.338T>A, NM_001206802.2:c.338T>C, NM_001206802.2:c.338T>A, XM_006712150.3:c.338T>C, XM_006712150.3:c.338T>A, XM_006712150.2:c.338T>C, XM_006712150.2:c.338T>A, XM_006712150.1:c.338T>C, XM_006712150.1:c.338T>A, NP_004872.2:p.Leu113Ser, NP_004872.2:p.Leu113Ter, NP_671713.1:p.Leu113Ser, NP_671713.1:p.Leu113Ter, NP_001193731.1:p.Leu113Ser, NP_001193731.1:p.Leu113Ter, XP_006712213.1:p.Leu113Ser, XP_006712213.1:p.Leu113Ter

Select item 142687336817.

rs1426873368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24084206 (GRCh38)
2:24307076 (GRCh37)
Canonical SPDI:: NC_000002.12:24084205:G:C
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24084206G>C, NC_000002.11:g.24307076G>C, NG_029715.1:g.6010C>G, NM_004881.5:c.121C>G, NM_004881.4:c.121C>G, NM_147184.4:c.121C>G, NM_147184.3:c.121C>G, NM_001206802.2:c.121C>G, XM_006712150.3:c.121C>G, XM_006712150.2:c.121C>G, XM_006712150.1:c.121C>G, NP_004872.2:p.Arg41Gly, NP_671713.1:p.Arg41Gly, NP_001193731.1:p.Arg41Gly, XP_006712213.1:p.Arg41Gly

Select item 142021762118.

rs1420217621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:24083122 (GRCh38)
2:24305992 (GRCh37)
Canonical SPDI:: NC_000002.12:24083121:C:G,NC_000002.12:24083121:C:T
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24083122C>G, NC_000002.12:g.24083122C>T, NC_000002.11:g.24305992C>G, NC_000002.11:g.24305992C>T, NG_029715.1:g.7094G>C, NG_029715.1:g.7094G>A, NM_004881.5:c.169G>C, NM_004881.5:c.169G>A, NM_004881.4:c.169G>C, NM_004881.4:c.169G>A, NM_147184.4:c.169G>C, NM_147184.4:c.169G>A, NM_147184.3:c.169G>C, NM_147184.3:c.169G>A, NM_001206802.2:c.169G>C, NM_001206802.2:c.169G>A, XM_006712150.3:c.169G>C, XM_006712150.3:c.169G>A, XM_006712150.2:c.169G>C, XM_006712150.2:c.169G>A, XM_006712150.1:c.169G>C, XM_006712150.1:c.169G>A, XM_024453249.2:c.18G>C, XM_024453249.2:c.18G>A, XM_024453249.1:c.18G>C, XM_024453249.1:c.18G>A, NP_004872.2:p.Ala57Pro, NP_004872.2:p.Ala57Thr, NP_671713.1:p.Ala57Pro, NP_671713.1:p.Ala57Thr, NP_001193731.1:p.Ala57Pro, NP_001193731.1:p.Ala57Thr, XP_006712213.1:p.Ala57Pro, XP_006712213.1:p.Ala57Thr, XP_024309017.1:p.Glu6Asp

Select item 140961942319.

rs1409619423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:24084320 (GRCh38)
2:24307190 (GRCh37)
Canonical SPDI:: NC_000002.12:24084319:C:G
Gene:: TP53I3 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24084320C>G, NC_000002.11:g.24307190C>G, NG_029715.1:g.5896G>C, NM_004881.5:c.7G>C, NM_004881.4:c.7G>C, NM_147184.4:c.7G>C, NM_147184.3:c.7G>C, NM_001206802.2:c.7G>C, XM_006712150.3:c.7G>C, XM_006712150.2:c.7G>C, XM_006712150.1:c.7G>C, NP_004872.2:p.Ala3Pro, NP_671713.1:p.Ala3Pro, NP_001193731.1:p.Ala3Pro, XP_006712213.1:p.Ala3Pro

Select item 140736891020.

rs1407368910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:24077683 (GRCh38)
2:24300553 (GRCh37)
Canonical SPDI:: NC_000002.12:24077682:G:T
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24077683G>T, NC_000002.11:g.24300553G>T, NG_029715.1:g.12533C>A, NM_004881.5:c.895C>A, NM_004881.4:c.895C>A, NM_147184.4:c.895C>A, NM_147184.3:c.895C>A, NM_001206802.2:c.698C>A, XM_006712150.3:c.698C>A, XM_006712150.2:c.698C>A, XM_006712150.1:c.698C>A, XM_024453249.2:c.628C>A, XM_024453249.1:c.628C>A, NP_004872.2:p.Pro299Thr, NP_671713.1:p.Pro299Thr, NP_001193731.1:p.Ala233Asp, XP_006712213.1:p.Ala233Asp, XP_024309017.1:p.Pro210Thr

<< First< Prev

Page of 13

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 244

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity