Linked Data
ClinVar Variation Id:
2638020
ClinVar RCV Id:
RCV003412622
dbSNP Id:
rs556239318
ExAC:
1:1447687 T / A
gnomAD v2:
1-1447687-T-A
gnomAD v3:
1-1512307-T-A
gnomAD v4:
1-1512307-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1512307T>A , CM000663.2:g.1512307T>A | GRCh38 |
| NC_000001.10:g.1447687T>A , CM000663.1:g.1447687T>A | GRCh37 |
| NC_000001.9:g.1437550T>A | NCBI36 |
| NG_053035.1:g.5165T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378756.8:c.39T>A MANE Select | ENSP00000368031.3:p.Gly13= | |
| ENST00000672388.1:n.143T>A | ||
| ENST00000378755.9:c.39T>A | ENSP00000368030.5:p.Gly13= | |
| ENST00000378756.7:c.39T>A | ENSP00000368031.3:p.Gly13= | |
| NM_001170535.1:c.39T>A | NP_001164006.1:p.Gly13= | |
| NM_018188.3:c.39T>A | NP_060658.3:p.Gly13= | |
| NM_001170535.2:c.39T>A | NP_001164006.1:p.Gly13= | |
| NM_018188.4:c.39T>A | NP_060658.3:p.Gly13= | |
| XM_024448098.1:c.39T>A | XP_024303866.1:p.Gly13= | |
| XR_001737282.1:n.165T>A | ||
| XR_002956997.1:n.165T>A | ||
| NM_001170535.3:c.39T>A MANE Select | NP_001164006.1:p.Gly13= | |
| NM_018188.5:c.39T>A | NP_060658.3:p.Gly13= |