Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925959G>T , CM000663.2:g.149925959G>T | GRCh38 |
| NC_000001.10:g.149897851G>T , CM000663.1:g.149897851G>T | GRCh37 |
| NC_000001.9:g.148164475G>T | NCBI36 |
| NG_032777.1:g.7294C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271628.9:c.790C>A MANE Select | ENSP00000271628.8:p.Pro264Thr | |
| ENST00000271628.8:c.790C>A | ENSP00000271628.8:p.Pro264Thr | |
| NM_005850.4:c.790C>A | NP_005841.1:p.Pro264Thr | |
| NM_005850.5:c.790C>A MANE Select | NP_005841.1:p.Pro264Thr |