Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523797C= , CM000664.2:g.232523797C= | GRCh38 |
| NC_000002.11:g.233388507C= , CM000664.1:g.233388507C= | GRCh37 |
| NC_000002.10:g.233096751C= | NCBI36 |
| NG_008028.1:g.2586C= | |
| NG_031969.1:g.8335C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1038C= MANE Select | ENSP00000479745.1:p.Cys346= | |
| ENST00000449534.6:c.1041C= | ENSP00000473410.1:p.Cys347= | |
| ENST00000617714.1:c.1038C= | ENSP00000479745.1:p.Cys346= | |
| NM_001195129.1:c.1038C= | NP_001182058.1:p.Cys346= | |
| NM_001195129.2:c.1038C= MANE Select | NP_001182058.1:p.Cys346= | |
| NM_001369848.1:c.1041C= | NP_001356777.1:p.Cys347= |