Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213140C= , CM000669.2:g.129213140C= | GRCh38 |
| NC_000007.13:g.128852981C= , CM000669.1:g.128852981C= | GRCh37 |
| NC_000007.12:g.128640217C= | NCBI36 |
| NG_023340.1:g.29269C= | |
| NG_023340.2:g.29269C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*689C= MANE Select | ENSP00000249373.3:n.*689C= | |
| ENST00000655644.1:c.*2808C= | ENSP00000499377.1:n.*2808C= | |
| ENST00000249373.7:c.*689C= | ENSP00000249373.3:n.*689C= | |
| NM_005631.4:c.*689C= | NP_005622.1:n.*689C= | |
| XM_011516522.1:c.*689C= | XP_011514824.1:n.*689C= | |
| XM_024446891.1:c.*689C= | XP_024302659.1:n.*689C= | |
| NM_005631.5:c.*689C= MANE Select | NP_005622.1:n.*689C= |