Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32345452G>A , CM000683.2:g.32345452G>A | GRCh38 |
| NC_000021.8:g.33717761G>A , CM000683.1:g.33717761G>A | GRCh37 |
| NC_000021.7:g.32639632G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014825.3:c.3992C>T MANE Select | NP_055640.2:p.Pro1331Leu |
| ENST00000382751.4:c.3992C>T MANE Select | ENSP00000372199.3:p.Pro1331Leu |
| NM_014825.2:c.3992C>T | NP_055640.2:p.Pro1331Leu |
| ENST00000382751.3:c.3992C>T | ENSP00000372199.3:p.Pro1331Leu |