Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138352931G>T , CM000667.2:g.138352931G>T | GRCh38 |
| NC_000005.9:g.137688620G>T , CM000667.1:g.137688620G>T | GRCh37 |
| NC_000005.8:g.137716519G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016604.4:c.136G>T MANE Select | NP_057688.3:p.Ala46Ser |
| ENST00000314358.10:c.136G>T MANE Select | ENSP00000326563.5:p.Ala46Ser |
| NM_016604.3:c.136G>T | NP_057688.2:p.Ala46Ser |
| ENST00000314358.9:c.136G>T | ENSP00000326563.5:p.Ala46Ser |
| XM_005272018.3:c.136G>T | XP_005272075.1:p.Ala46Ser |
| XM_005272018.4:c.136G>T | XP_005272075.1:p.Ala46Ser |