Linked Data
ClinVar Variation Id:
2891766
ClinVar RCV Id:
RCV003725109
dbSNP Id:
rs180739396
ExAC:
14:91779914 G / A
gnomAD v2:
14-91779914-G-A
gnomAD v3:
14-91313570-G-A
gnomAD v4:
14-91313570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313570G>A , CM000676.2:g.91313570G>A | GRCh38 |
| NC_000014.8:g.91779914G>A , CM000676.1:g.91779914G>A | GRCh37 |
| NC_000014.7:g.90849667G>A | NCBI36 |
| NG_033118.1:g.109275C>T | |
| NG_033118.2:g.109275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2246C>T MANE Select | ENSP00000374507.6:p.Ala749Val | |
| ENST00000389857.10:c.2246C>T | ENSP00000374507.6:p.Ala749Val | |
| NM_001080414.3:c.2246C>T | NP_001073883.2:p.Ala749Val | |
| XM_005267691.3:c.2246C>T | XP_005267748.1:p.Ala749Val | |
| XM_011536796.1:c.2138C>T | XP_011535098.1:p.Ala713Val | |
| XR_429316.2:n.2374C>T | ||
| XR_943459.1:n.2374C>T | ||
| XM_005267691.5:c.2246C>T | XP_005267748.1:p.Ala749Val | |
| XM_011536796.2:c.2138C>T | XP_011535098.1:p.Ala713Val | |
| XM_017021335.2:c.2246C>T | XP_016876824.1:p.Ala749Val | |
| XM_017021337.2:c.2246C>T | XP_016876826.1:p.Ala749Val | |
| XR_429316.4:n.2372C>T | ||
| NM_001080414.4:c.2246C>T MANE Select | NP_001073883.2:p.Ala749Val |