Linked Data
dbSNP Id:
rs900110127
gnomAD v2:
9-132576062-C-T
gnomAD v3:
9-129813783-C-T
gnomAD v4:
9-129813783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813783C>T , CM000671.2:g.129813783C>T | GRCh38 |
| NC_000009.11:g.132576062C>T , CM000671.1:g.132576062C>T | GRCh37 |
| NC_000009.10:g.131615883C>T | NCBI36 |
| NG_008049.1:g.15380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*189G>A MANE Select | ENSP00000345719.4:n.*189G>A | |
| ENST00000651202.1:c.*456G>A | ENSP00000498222.1:n.*456G>A | |
| ENST00000351698.4:c.*189G>A | ENSP00000345719.4:n.*189G>A | |
| ENST00000474192.1:n.772G>A | ||
| NM_000113.2:c.*189G>A | NP_000104.1:n.*189G>A | |
| XR_929731.3:n.1383G>A | ||
| NM_000113.3:c.*189G>A MANE Select | NP_000104.1:n.*189G>A |