Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952899G= , CM000679.2:g.43952899G= | GRCh38 |
| NC_000017.10:g.42030267G= , CM000679.1:g.42030267G= | GRCh37 |
| NC_000017.9:g.39385793G= | NCBI36 |
| NG_023338.1:g.56571C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*206C= | ENSP00000467310.1:n.*206C= | |
| ENST00000692052.1:c.*57C= MANE Select | ENSP00000509262.1:n.*57C= | |
| ENST00000360085.6:c.*57C= | ENSP00000353198.1:n.*57C= | |
| ENST00000592796.1:c.*206C= | ENSP00000467310.1:n.*206C= | |
| NM_004160.4:c.*57C= | NP_004151.3:n.*57C= | |
| XM_011525035.1:c.*57C= | XP_011523337.1:n.*57C= | |
| NM_004160.5:c.*57C= | NP_004151.3:n.*57C= | |
| NM_001394028.1:c.*57C= MANE Select | NP_001380957.1:n.*57C= | |
| NM_001394029.1:c.*206C= | NP_001380958.1:n.*206C= | |
| NM_004160.6:c.*57C= | NP_004151.4:n.*57C= |