Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128258769G>A , CM000667.2:g.128258769G>A | GRCh38 |
| NC_000005.9:g.127594461G>A , CM000667.1:g.127594461G>A | GRCh37 |
| NC_000005.8:g.127622360G>A | NCBI36 |
| NG_008750.1:g.284275C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.*686C>T MANE Select | NP_001990.2:n.*686C>T |
| ENST00000262464.9:c.*686C>T MANE Select | ENSP00000262464.4:n.*686C>T |
| NM_001999.3:c.*686C>T | NP_001990.2:n.*686C>T |
| ENST00000262464.8:c.*686C>T | ENSP00000262464.4:n.*686C>T |
| ENST00000508053.5:c.*686C>T | ENSP00000424571.1:n.*686C>T |
| ENST00000619499.4:c.9422C>T | ENSP00000482132.1:n.9422C>T |