Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969354C= , CM000685.2:g.154969354C= | GRCh38 |
| NC_000023.10:g.154197629C= , CM000685.1:g.154197629C= | GRCh37 |
| NC_000023.9:g.153850823C= | NCBI36 |
| NG_011403.1:g.58370G= | |
| NG_011403.2:g.58370G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.986G= MANE Select | NP_000123.1:p.Cys329= |
| ENST00000360256.9:c.986G= MANE Select | ENSP00000353393.4:p.Cys329= |
| NM_000132.3:c.986G= | NP_000123.1:p.Cys329= |
| ENST00000360256.8:c.986G= | ENSP00000353393.4:p.Cys329= |
| ENST00000647125.1:c.*862G= | ENSP00000496062.1:n.*862G= |
| XM_011531126.1:c.881G= | XP_011529428.1:p.Cys294= |