Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128311343G>A , CM000667.2:g.128311343G>A | GRCh38 |
| NC_000005.9:g.127647035G>A , CM000667.1:g.127647035G>A | GRCh37 |
| NC_000005.8:g.127674934G>A | NCBI36 |
| NG_008750.1:g.231701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1815C>T | ||
| ENST00000703785.1:n.1734C>T | ||
| ENST00000262464.9:c.5031C>T MANE Select | ENSP00000262464.4:p.Cys1677= | |
| ENST00000262464.8:c.5031C>T | ENSP00000262464.4:p.Cys1677= | |
| ENST00000508053.5:c.5031C>T | ENSP00000424571.1:p.Cys1677= | |
| ENST00000619499.4:c.5028C>T | ENSP00000482132.1:p.Cys1676= | |
| NM_001999.3:c.5031C>T | NP_001990.2:p.Cys1677= | |
| XM_017009228.2:c.4878C>T | XP_016864717.1:p.Cys1626= | |
| NM_001999.4:c.5031C>T MANE Select | NP_001990.2:p.Cys1677= |