Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102498137G>A , CM000676.2:g.102498137G>A | GRCh38 |
| NC_000014.8:g.102964474G>A , CM000676.1:g.102964474G>A | GRCh37 |
| NC_000014.7:g.102034227G>A | NCBI36 |
| NG_042851.1:g.140226G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014844.5:c.4116G>A MANE Select | NP_055659.2:p.Pro1372= |
| ENST00000359520.12:c.4116G>A MANE Select | ENSP00000352510.7:p.Pro1372= |
| NM_014844.3:c.4116G>A | NP_055659.2:p.Pro1372= |
| NM_014844.4:c.4116G>A | NP_055659.2:p.Pro1372= |
| ENST00000359520.11:c.4116G>A | ENSP00000352510.7:p.Pro1372= |
| ENST00000559124.1:n.216G>A | |
| ENST00000561099.1:n.425G>A | |
| XM_005268246.2:c.3783G>A | XP_005268303.1:p.Pro1261= |