Linked Data
dbSNP Id:
rs145607121
gnomAD v2:
9-132575997-C-A
gnomAD v3:
9-129813718-C-A
gnomAD v4:
9-129813718-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813718C>A , CM000671.2:g.129813718C>A | GRCh38 |
| NC_000009.11:g.132575997C>A , CM000671.1:g.132575997C>A | GRCh37 |
| NC_000009.10:g.131615818C>A | NCBI36 |
| NG_008049.1:g.15445G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*254G>T MANE Select | ENSP00000345719.4:n.*254G>T | |
| ENST00000651202.1:c.*521G>T | ENSP00000498222.1:n.*521G>T | |
| ENST00000351698.4:c.*254G>T | ENSP00000345719.4:n.*254G>T | |
| ENST00000474192.1:n.837G>T | ||
| NM_000113.2:c.*254G>T | NP_000104.1:n.*254G>T | |
| XR_929731.3:n.1448G>T | ||
| NM_000113.3:c.*254G>T MANE Select | NP_000104.1:n.*254G>T |