Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263574G>T , CM000667.2:g.128263574G>T | GRCh38 |
| NC_000005.9:g.127599266G>T , CM000667.1:g.127599266G>T | GRCh37 |
| NC_000005.8:g.127627165G>T | NCBI36 |
| NG_008750.1:g.279470C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703782.1:n.158C>A | ||
| ENST00000262464.9:c.8043C>A MANE Select | ENSP00000262464.4:p.Pro2681= | |
| ENST00000262464.8:c.8043C>A | ENSP00000262464.4:p.Pro2681= | |
| ENST00000508053.5:c.8043C>A | ENSP00000424571.1:p.Pro2681= | |
| ENST00000619499.4:c.8040C>A | ENSP00000482132.1:p.Pro2680= | |
| NM_001999.3:c.8043C>A | NP_001990.2:p.Pro2681= | |
| XM_017009228.2:c.7890C>A | XP_016864717.1:p.Pro2630= | |
| NM_001999.4:c.8043C>A MANE Select | NP_001990.2:p.Pro2681= |