Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102497652C>T , CM000676.2:g.102497652C>T | GRCh38 |
| NC_000014.8:g.102963989C>T , CM000676.1:g.102963989C>T | GRCh37 |
| NC_000014.7:g.102033742C>T | NCBI36 |
| NG_042851.1:g.139741C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014844.5:c.4014C>T MANE Select | NP_055659.2:p.Gly1338= |
| ENST00000359520.12:c.4014C>T MANE Select | ENSP00000352510.7:p.Gly1338= |
| NM_014844.3:c.4014C>T | NP_055659.2:p.Gly1338= |
| NM_014844.4:c.4014C>T | NP_055659.2:p.Gly1338= |
| ENST00000359520.11:c.4014C>T | ENSP00000352510.7:p.Gly1338= |
| ENST00000559124.1:n.114C>T | |
| ENST00000561099.1:n.323C>T | |
| XM_005268246.2:c.3681C>T | XP_005268303.1:p.Gly1227= |