Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244742G>T , CM000665.2:g.101244742G>T | GRCh38 |
| NC_000003.11:g.100963586G>T , CM000665.1:g.100963586G>T | GRCh37 |
| NC_000003.10:g.102446276G>T | NCBI36 |
| NG_028284.1:g.80834C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1589C>A MANE Select | NP_057331.2:p.Ser530Ter |
| ENST00000193391.8:c.1589C>A MANE Select | ENSP00000193391.6:p.Ser530Ter |
| NM_016247.3:c.1589C>A | NP_057331.2:p.Ser530Ter |
| ENST00000193391.7:c.1589C>A | ENSP00000193391.6:p.Ser530Ter |
| XM_011512871.1:c.1295C>A | XP_011511173.1:p.Ser432Ter |
| XM_011512872.1:c.1178C>A | XP_011511174.1:p.Ser393Ter |