Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159480A>G , CM000663.2:g.204159480A>G | GRCh38 |
| NC_000001.10:g.204128608A>G , CM000663.1:g.204128608A>G | GRCh37 |
| NC_000001.9:g.202395231A>G | NCBI36 |
| NG_012122.1:g.11858T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.608T>C MANE Select | ENSP00000272190.8:p.Ile203Thr | |
| ENST00000638118.1:c.494T>C | ENSP00000490307.1:p.Ile165Thr | |
| ENST00000272190.8:c.608T>C | ENSP00000272190.8:p.Ile203Thr | |
| NM_000537.3:c.608T>C | NP_000528.1:p.Ile203Thr | |
| NM_000537.4:c.608T>C MANE Select | NP_000528.1:p.Ile203Thr |