dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196351556C>A , CM000665.2:g.196351556C>A | GRCh38 |
| NC_000003.11:g.196078427C>A , CM000665.1:g.196078427C>A | GRCh37 |
| NC_000003.10:g.197562824C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296328.9:c.*5129G>T MANE Select | ENSP00000296328.4:n.*5129G>T | |
| ENST00000296328.8:c.*5129G>T | ENSP00000296328.4:n.*5129G>T | |
| XM_011512670.2:c.*5129G>T | XP_011510972.1:n.*5129G>T | |
| XM_011512671.2:c.*5129G>T | XP_011510973.1:n.*5129G>T | |
| NM_015562.2:c.*5129G>T MANE Select | NP_056377.1:n.*5129G>T |