Linked Data
ClinVar Variation Id:
2514001
ClinVar RCV Id:
RCV004293503
dbSNP Id:
rs201997266
ExAC:
9:37442022 C / T
gnomAD v2:
9-37442022-C-T
gnomAD v3:
9-37442025-C-T
gnomAD v4:
9-37442025-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37442025C>T , CM000671.2:g.37442025C>T | GRCh38 |
| NC_000009.11:g.37442022C>T , CM000671.1:g.37442022C>T | GRCh37 |
| NC_000009.10:g.37432022C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307750.5:c.527G>A MANE Select | ENSP00000307604.4:p.Arg176His | |
| ENST00000307750.4:c.527G>A | ENSP00000307604.4:p.Arg176His | |
| NM_014872.2:c.527G>A | NP_055687.1:p.Arg176His | |
| XM_005251634.1:c.527G>A | XP_005251691.1:p.Arg176His | |
| XM_005251634.2:c.527G>A | XP_005251691.1:p.Arg176His | |
| NM_014872.3:c.527G>A MANE Select | NP_055687.1:p.Arg176His |