Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204161389G>A , CM000663.2:g.204161389G>A | GRCh38 |
| NC_000001.10:g.204130517G>A , CM000663.1:g.204130517G>A | GRCh37 |
| NC_000001.9:g.202397140G>A | NCBI36 |
| NG_012122.1:g.9949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.276C>T MANE Select | ENSP00000272190.8:p.Ile92= | |
| ENST00000638118.1:c.162C>T | ENSP00000490307.1:p.Ile54= | |
| ENST00000272190.8:c.276C>T | ENSP00000272190.8:p.Ile92= | |
| NM_000537.3:c.276C>T | NP_000528.1:p.Ile92= | |
| NM_000537.4:c.276C>T MANE Select | NP_000528.1:p.Ile92= |