Linked Data
ClinVar Variation Id:
6986
ClinVar RCV Id:
RCV000007402
dbSNP Id:
rs104894110
ExAC:
9:100616390 C / T
gnomAD v2:
9-100616390-C-T
gnomAD v4:
9-97854108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854108C>T , CM000671.2:g.97854108C>T | GRCh38 |
| NC_000009.11:g.100616390C>T , CM000671.1:g.100616390C>T | GRCh37 |
| NC_000009.10:g.99656211C>T | NCBI36 |
| NG_011979.1:g.5854C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375123.5:c.194C>T MANE Select | ENSP00000364265.3:p.Ala65Val | |
| ENST00000375123.4:c.194C>T | ENSP00000364265.3:p.Ala65Val | |
| NM_004473.3:c.194C>T | NP_004464.2:p.Ala65Val | |
| NM_004473.4:c.194C>T MANE Select | NP_004464.2:p.Ala65Val |