Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6073623G>T , CM000674.2:g.6073623G>T | GRCh38 |
| NC_000012.11:g.6182789G>T , CM000674.1:g.6182789G>T | GRCh37 |
| NC_000012.10:g.6053050G>T | NCBI36 |
| NG_009072.1:g.56048C>A | |
| NG_009072.2:g.56048C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.993C>A MANE Select | NP_000543.3:p.Cys331Ter |
| ENST00000261405.10:c.993C>A MANE Select | ENSP00000261405.5:p.Cys331Ter |
| NM_000552.3:c.993C>A | NP_000543.2:p.Cys331Ter |
| NM_000552.4:c.993C>A | NP_000543.2:p.Cys331Ter |
| ENST00000261405.9:c.993C>A | ENSP00000261405.5:p.Cys331Ter |
| ENST00000538635.5:n.420+36892C>A |