SNP Links for Protein (Select 657188862) - SNP

Links from Protein

Items: 1 to 20 of 149

<< First< Prev

Page of 8

Next >Last >>

Select item 14857784241.

rs1485778424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:139454882 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139454881:T:A
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139454882T>A, NW_021159996.1:g.44674T>A, NM_001077693.4:c.418A>T, NM_001077693.3:c.418A>T, NM_001077693.2:c.418A>T, NR_121659.2:n.600A>T, NR_121659.1:n.600A>T, NM_001293739.2:c.418A>T, NM_001293739.1:c.418A>T, NP_001071161.1:p.Ile140Phe, NP_001280668.1:p.Ile140Phe

Select item 14818471472.

rs1481847147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139456489 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139456488:C:T
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.139456489C>T, NW_021159996.1:g.46284C>T, NM_001077693.4:c.247G>A, NM_001077693.3:c.247G>A, NM_001077693.2:c.247G>A, NR_121659.2:n.320G>A, NR_121659.1:n.320G>A, NM_001293739.2:c.247G>A, NM_001293739.1:c.247G>A, NP_001071161.1:p.Gly83Arg, NP_001280668.1:p.Gly83Arg

Select item 14779107293.

rs1477910729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:139462652 (GRCh38)
5:138842237 (GRCh37)
Canonical SPDI:: NC_000005.10:139462651:T:A,NC_000005.10:139462651:T:G
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139462652T>A, NC_000005.10:g.139462652T>G, NC_000005.9:g.138842237T>A, NC_000005.9:g.138842237T>G, NW_021159996.1:g.52447T>A, NW_021159996.1:g.52447T>G, NM_001077693.4:c.19A>T, NM_001077693.4:c.19A>C, NM_001077693.3:c.19A>T, NM_001077693.3:c.19A>C, NM_001077693.2:c.19A>T, NM_001077693.2:c.19A>C, NR_121659.2:n.92A>T, NR_121659.2:n.92A>C, NR_121659.1:n.92A>T, NR_121659.1:n.92A>C, NM_001293739.2:c.19A>T, NM_001293739.2:c.19A>C, NM_001293739.1:c.19A>T, NM_001293739.1:c.19A>C, NP_001071161.1:p.Met7Leu, NP_001071161.1:p.Met7Leu, NP_001280668.1:p.Met7Leu, NP_001280668.1:p.Met7Leu

Select item 14750641864.

rs1475064186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:139449172 (GRCh38)
5:138784861 (GRCh37)
Canonical SPDI:: NC_000005.10:139449171:C:A
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.139449172C>A, NC_000005.9:g.138784861C>A, NW_021159996.1:g.39701C>A, NM_001077693.4:c.515G>T, NM_001077693.3:c.515G>T, NM_001077693.2:c.515G>T, NR_121659.2:n.697G>T, NR_121659.1:n.697G>T, NM_001293739.2:c.515G>T, NM_001293739.1:c.515G>T, NP_001071161.1:p.Cys172Phe, NP_001280668.1:p.Cys172Phe

Select item 14736395755.

rs1473639575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:139455415 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139455414:G:C,NC_000005.10:139455414:G:T
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000078/11 (GnomAD)
HGVS:: NC_000005.10:g.139455415G>C, NC_000005.10:g.139455415G>T, NW_021159996.1:g.45208G>C, NW_021159996.1:g.45208G>T, NM_001077693.4:c.284C>G, NM_001077693.4:c.284C>A, NM_001077693.3:c.284C>G, NM_001077693.3:c.284C>A, NM_001077693.2:c.284C>G, NM_001077693.2:c.284C>A, NR_121659.2:n.357C>G, NR_121659.2:n.357C>A, NR_121659.1:n.357C>G, NR_121659.1:n.357C>A, NM_001293739.2:c.284C>G, NM_001293739.2:c.284C>A, NM_001293739.1:c.284C>G, NM_001293739.1:c.284C>A, NP_001071161.1:p.Pro95Arg, NP_001071161.1:p.Pro95His, NP_001280668.1:p.Pro95Arg, NP_001280668.1:p.Pro95His

Select item 14721957696.

rs1472195769 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 5:139449099 (GRCh38)
5:138784788 (GRCh37)
Canonical SPDI:: NC_000005.10:139449094:TTTGTTTG:TTTG
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139449095TTTG[1], NC_000005.9:g.138784784TTTG[1], NW_021159996.1:g.39624TTTG[1], NM_001077693.4:c.589_592del, NM_001077693.3:c.589_592del, NM_001077693.2:c.589_592del, NR_121659.2:n.767CAAA[1], NR_121659.1:n.767CAAA[1], NM_001293739.2:c.589_592del, NM_001293739.1:c.589_592del, NP_001071161.1:p.Gln197fs, NP_001280668.1:p.Gln197fs

Select item 14652125997.

rs1465212599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139458173 (GRCh38)
5:138837758 (GRCh37)
Canonical SPDI:: NC_000005.10:139458172:G:A
Gene:: ECSCR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.139458173G>A, NC_000005.9:g.138837758G>A, NW_021159996.1:g.47968G>A, NM_001077693.4:c.72C>T, NM_001077693.3:c.72C>T, NM_001077693.2:c.72C>T, NR_121659.2:n.145C>T, NR_121659.1:n.145C>T, NM_001293739.2:c.72C>T, NM_001293739.1:c.72C>T

Select item 14639655818.

rs1463965581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:139462628 (GRCh38)
5:138842213 (GRCh37)
Canonical SPDI:: NC_000005.10:139462627:C:A,NC_000005.10:139462627:C:T
Gene:: ECSCR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139462628C>A, NC_000005.10:g.139462628C>T, NC_000005.9:g.138842213C>A, NC_000005.9:g.138842213C>T, NW_021159996.1:g.52423C>A, NW_021159996.1:g.52423C>T, NM_001077693.4:c.43G>T, NM_001077693.4:c.43G>A, NM_001077693.3:c.43G>T, NM_001077693.3:c.43G>A, NM_001077693.2:c.43G>T, NM_001077693.2:c.43G>A, NR_121659.2:n.116G>T, NR_121659.2:n.116G>A, NR_121659.1:n.116G>T, NR_121659.1:n.116G>A, NM_001293739.2:c.43G>T, NM_001293739.2:c.43G>A, NM_001293739.1:c.43G>T, NM_001293739.1:c.43G>A, NP_001071161.1:p.Gly15Cys, NP_001071161.1:p.Gly15Ser, NP_001280668.1:p.Gly15Cys, NP_001280668.1:p.Gly15Ser

Select item 14624865339.

rs1462486533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:139457761 (GRCh38)
5:138837346 (GRCh37)
Canonical SPDI:: NC_000005.10:139457760:G:C,NC_000005.10:139457760:G:T
Gene:: ECSCR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139457761G>C, NC_000005.10:g.139457761G>T, NC_000005.9:g.138837346G>C, NC_000005.9:g.138837346G>T, NW_021159996.1:g.47556G>C, NW_021159996.1:g.47556G>T, NM_001077693.4:c.153C>G, NM_001077693.4:c.153C>A, NM_001077693.3:c.153C>G, NM_001077693.3:c.153C>A, NM_001077693.2:c.153C>G, NM_001077693.2:c.153C>A, NR_121659.2:n.226C>G, NR_121659.2:n.226C>A, NR_121659.1:n.226C>G, NR_121659.1:n.226C>A, NM_001293739.2:c.153C>G, NM_001293739.2:c.153C>A, NM_001293739.1:c.153C>G, NM_001293739.1:c.153C>A, NP_001071161.1:p.Asn51Lys, NP_001071161.1:p.Asn51Lys, NP_001280668.1:p.Asn51Lys, NP_001280668.1:p.Asn51Lys

Select item 145067583510.

rs1450675835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139457565 (GRCh38)
5:138837150 (GRCh37)
Canonical SPDI:: NC_000005.10:139457564:A:G
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.139457565A>G, NC_000005.9:g.138837150A>G, NW_021159996.1:g.47360A>G, NM_001077693.4:c.197T>C, NM_001077693.3:c.197T>C, NM_001077693.2:c.197T>C, NR_121659.2:n.270T>C, NR_121659.1:n.270T>C, NM_001293739.2:c.197T>C, NM_001293739.1:c.197T>C, NP_001071161.1:p.Leu66Pro, NP_001280668.1:p.Leu66Pro

Select item 144592221411.

rs1445922214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:139449121 (GRCh38)
5:138784810 (GRCh37)
Canonical SPDI:: NC_000005.10:139449120:T:G
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139449121T>G, NC_000005.9:g.138784810T>G, NW_021159996.1:g.39650T>G, NM_001077693.4:c.566A>C, NM_001077693.3:c.566A>C, NM_001077693.2:c.566A>C, NR_121659.2:n.748A>C, NR_121659.1:n.748A>C, NM_001293739.2:c.566A>C, NM_001293739.1:c.566A>C, NP_001071161.1:p.Asn189Thr, NP_001280668.1:p.Asn189Thr

Select item 144590861812.

rs1445908618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139457591 (GRCh38)
5:138837176 (GRCh37)
Canonical SPDI:: NC_000005.10:139457590:G:T
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139457591G>T, NC_000005.9:g.138837176G>T, NW_021159996.1:g.47386G>T, NM_001077693.4:c.171C>A, NM_001077693.3:c.171C>A, NM_001077693.2:c.171C>A, NR_121659.2:n.244C>A, NR_121659.1:n.244C>A, NM_001293739.2:c.171C>A, NM_001293739.1:c.171C>A

Select item 144387764713.

rs1443877647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139457769 (GRCh38)
5:138837354 (GRCh37)
Canonical SPDI:: NC_000005.10:139457768:A:G
Gene:: ECSCR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139457769A>G, NC_000005.9:g.138837354A>G, NW_021159996.1:g.47564A>G, NM_001077693.4:c.145T>C, NM_001077693.3:c.145T>C, NM_001077693.2:c.145T>C, NR_121659.2:n.218T>C, NR_121659.1:n.218T>C, NM_001293739.2:c.145T>C, NM_001293739.1:c.145T>C, NP_001071161.1:p.Ser49Pro, NP_001280668.1:p.Ser49Pro

Select item 144099782614.

rs1440997826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:139454842 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139454841:T:G
Gene:: ECSCR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.139454842T>G, NW_021159996.1:g.44634T>G, NM_001077693.4:c.458A>C, NM_001077693.3:c.458A>C, NM_001077693.2:c.458A>C, NR_121659.2:n.640A>C, NR_121659.1:n.640A>C, NM_001293739.2:c.458A>C, NM_001293739.1:c.458A>C, NP_001071161.1:p.Lys153Thr, NP_001280668.1:p.Lys153Thr

Select item 143085217915.

rs1430852179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:139458147 (GRCh38)
5:138837732 (GRCh37)
Canonical SPDI:: NC_000005.10:139458146:C:G,NC_000005.10:139458146:C:T
Gene:: ECSCR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139458147C>G, NC_000005.10:g.139458147C>T, NC_000005.9:g.138837732C>G, NC_000005.9:g.138837732C>T, NW_021159996.1:g.47942C>G, NW_021159996.1:g.47942C>T, NM_001077693.4:c.98G>C, NM_001077693.4:c.98G>A, NM_001077693.3:c.98G>C, NM_001077693.3:c.98G>A, NM_001077693.2:c.98G>C, NM_001077693.2:c.98G>A, NR_121659.2:n.171G>C, NR_121659.2:n.171G>A, NR_121659.1:n.171G>C, NR_121659.1:n.171G>A, NM_001293739.2:c.98G>C, NM_001293739.2:c.98G>A, NM_001293739.1:c.98G>C, NM_001293739.1:c.98G>A, NP_001071161.1:p.Ser33Thr, NP_001071161.1:p.Ser33Asn, NP_001280668.1:p.Ser33Thr, NP_001280668.1:p.Ser33Asn

Select item 142822593216.

rs1428225932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139458157 (GRCh38)
5:138837742 (GRCh37)
Canonical SPDI:: NC_000005.10:139458156:G:A
Gene:: ECSCR (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.139458157G>A, NC_000005.9:g.138837742G>A, NW_021159996.1:g.47952G>A, NM_001077693.4:c.88C>T, NM_001077693.3:c.88C>T, NM_001077693.2:c.88C>T, NR_121659.2:n.161C>T, NR_121659.1:n.161C>T, NM_001293739.2:c.88C>T, NM_001293739.1:c.88C>T, NP_001071161.1:p.Gln30Ter, NP_001280668.1:p.Gln30Ter

Select item 142492950117.

rs1424929501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139454857 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139454856:C:G
Gene:: ECSCR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.139454857C>G, NW_021159996.1:g.44649C>G, NM_001077693.4:c.443G>C, NM_001077693.3:c.443G>C, NM_001077693.2:c.443G>C, NR_121659.2:n.625G>C, NR_121659.1:n.625G>C, NM_001293739.2:c.443G>C, NM_001293739.1:c.443G>C, NP_001071161.1:p.Arg148Thr, NP_001280668.1:p.Arg148Thr

Select item 142260690218.

rs1422606902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139455397 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139455396:C:T
Gene:: ECSCR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.139455397C>T, NW_021159996.1:g.45190C>T, NM_001077693.4:c.302G>A, NM_001077693.3:c.302G>A, NM_001077693.2:c.302G>A, NR_121659.2:n.375G>A, NR_121659.1:n.375G>A, NM_001293739.2:c.302G>A, NM_001293739.1:c.302G>A, NP_001071161.1:p.Ser101Asn, NP_001280668.1:p.Ser101Asn

Select item 142056184819.

rs1420561848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139455374 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:139455373:T:C
Gene:: ECSCR (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.139455374T>C, NW_021159996.1:g.45167T>C, NM_001077693.4:c.325A>G, NM_001077693.3:c.325A>G, NM_001077693.2:c.325A>G, NR_121659.2:n.398A>G, NR_121659.1:n.398A>G, NM_001293739.2:c.325A>G, NM_001293739.1:c.325A>G, NP_001071161.1:p.Thr109Ala, NP_001280668.1:p.Thr109Ala

Select item 141925710120.

rs1419257101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139462656 (GRCh38)
5:138842241 (GRCh37)
Canonical SPDI:: NC_000005.10:139462655:T:C
Gene:: ECSCR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139462656T>C, NC_000005.9:g.138842241T>C, NW_021159996.1:g.52451T>C, NM_001077693.4:c.15A>G, NM_001077693.3:c.15A>G, NM_001077693.2:c.15A>G, NR_121659.2:n.88A>G, NR_121659.1:n.88A>G, NM_001293739.2:c.15A>G, NM_001293739.1:c.15A>G

<< First< Prev

Page of 8

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 149

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity