Linked Data
ClinVar Variation Id:
2977404
ClinVar RCV Id:
RCV003831522
dbSNP Id:
rs372729748
ExAC:
9:133738221 C / T
gnomAD v2:
9-133738221-C-T
gnomAD v3:
9-130862834-C-T
gnomAD v4:
9-130862834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862834C>T , CM000671.2:g.130862834C>T | GRCh38 |
| NC_000009.11:g.133738221C>T , CM000671.1:g.133738221C>T | GRCh37 |
| NC_000009.10:g.132728042C>T | NCBI36 |
| NG_012034.1:g.153954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.678C>T | ENSP00000361423.2:p.Asp226= | |
| ENST00000318560.6:c.621C>T MANE Select | ENSP00000323315.5:p.Asp207= | |
| ENST00000372348.7:c.678C>T | ENSP00000361423.2:p.Asp226= | |
| ENST00000318560.5:c.621C>T | ENSP00000323315.5:p.Asp207= | |
| ENST00000372348.6:c.678C>T | ENSP00000361423.2:p.Asp226= | |
| NM_005157.5:c.621C>T | NP_005148.2:p.Asp207= | |
| NM_007313.2:c.678C>T | NP_009297.2:p.Asp226= | |
| NM_005157.6:c.621C>T MANE Select | NP_005148.2:p.Asp207= | |
| NM_007313.3:c.678C>T | NP_009297.2:p.Asp226= |