Linked Data
ClinVar Variation Id:
1486256
ClinVar RCV Id:
RCV002003464
dbSNP Id:
rs748870391
ExAC:
4:103189236 C / T
gnomAD v2:
4-103189236-C-T
gnomAD v4:
4-102268079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102268079C>T , CM000666.2:g.102268079C>T | GRCh38 |
| NC_000004.11:g.103189236C>T , CM000666.1:g.103189236C>T | GRCh37 |
| NC_000004.10:g.103408259C>T | NCBI36 |
| NG_047177.1:g.82420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424970.7:c.866G>A | ENSP00000394548.3:p.Gly289Glu | |
| ENST00000682227.1:c.841G>A | ENSP00000508363.1:p.Asp281Asn | |
| ENST00000682243.1:c.*987G>A | ENSP00000507952.1:n.*987G>A | |
| ENST00000682549.1:c.866G>A | ENSP00000507483.1:p.Gly289Glu | |
| ENST00000682932.1:c.841G>A | ENSP00000507414.1:p.Asp281Asn | |
| ENST00000683173.1:c.*962G>A | ENSP00000508032.1:n.*962G>A | |
| ENST00000683221.1:c.841G>A | ENSP00000508093.1:p.Asp281Asn | |
| ENST00000683401.1:n.774G>A | ||
| ENST00000683412.1:c.841G>A | ENSP00000507538.1:p.Asp281Asn | |
| ENST00000683462.1:c.866G>A | ENSP00000507170.1:p.Gly289Glu | |
| ENST00000683634.1:c.*962G>A | ENSP00000507087.1:n.*962G>A | |
| ENST00000683706.1:c.245G>A | ENSP00000506745.1:p.Gly82Glu | |
| ENST00000683916.1:c.866G>A | ENSP00000508106.1:p.Gly289Glu | |
| ENST00000684289.1:c.*516G>A | ENSP00000506748.1:n.*516G>A | |
| ENST00000684386.1:c.*55G>A | ENSP00000507611.1:n.*55G>A | |
| ENST00000356736.5:c.841G>A MANE Select | ENSP00000349174.4:p.Asp281Asn | |
| ENST00000356736.4:c.841G>A | ENSP00000349174.4:p.Asp281Asn | |
| ENST00000394833.6:c.841G>A | ENSP00000378310.2:p.Asp281Asn | |
| ENST00000424970.6:c.841G>A | ENSP00000394548.2:p.Asp281Asn | |
| NM_001135146.1:c.841G>A | NP_001128618.1:p.Asp281Asn | |
| NM_001135147.1:c.841G>A | NP_001128619.1:p.Asp281Asn | |
| NM_001135148.1:c.640G>A | NP_001128620.1:p.Asp214Asn | |
| NM_022154.5:c.841G>A | NP_071437.3:p.Asp281Asn | |
| XM_005263177.1:c.841G>A | XP_005263234.1:p.Asp281Asn | |
| XM_011532182.1:c.199G>A | XP_011530484.1:p.Asp67Asn | |
| XM_005263177.2:c.841G>A | XP_005263234.1:p.Asp281Asn | |
| XM_017008541.1:c.640G>A | XP_016864030.1:p.Asp214Asn | |
| XM_024454184.1:c.841G>A | XP_024309952.1:p.Asp281Asn | |
| NM_001135146.2:c.841G>A MANE Select | NP_001128618.1:p.Asp281Asn | |
| NM_001135148.2:c.640G>A | NP_001128620.1:p.Asp214Asn |