Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129210408C= , CM000669.2:g.129210408C= | GRCh38 |
| NC_000007.13:g.128850249C= , CM000669.1:g.128850249C= | GRCh37 |
| NC_000007.12:g.128637485C= | NCBI36 |
| NG_023340.1:g.26537C= | |
| NG_023340.2:g.26537C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1512C= MANE Select | ENSP00000249373.3:p.Ile504= | |
| ENST00000655644.1:c.*1267C= | ENSP00000499377.1:n.*1267C= | |
| ENST00000249373.7:c.1512C= | ENSP00000249373.3:p.Ile504= | |
| ENST00000462420.2:c.483C= | ||
| NM_005631.4:c.1512C= | NP_005622.1:p.Ile504= | |
| XM_011516522.1:c.1122C= | XP_011514824.1:p.Ile374= | |
| XM_024446891.1:c.1122C= | XP_024302659.1:p.Ile374= | |
| NM_005631.5:c.1512C= MANE Select | NP_005622.1:p.Ile504= |