Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204161408T>C , CM000663.2:g.204161408T>C | GRCh38 |
| NC_000001.10:g.204130536T>C , CM000663.1:g.204130536T>C | GRCh37 |
| NC_000001.9:g.202397159T>C | NCBI36 |
| NG_012122.1:g.9930A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.257A>G MANE Select | ENSP00000272190.8:p.Tyr86Cys | |
| ENST00000638118.1:c.143A>G | ENSP00000490307.1:p.Tyr48Cys | |
| ENST00000272190.8:c.257A>G | ENSP00000272190.8:p.Tyr86Cys | |
| NM_000537.3:c.257A>G | NP_000528.1:p.Tyr86Cys | |
| NM_000537.4:c.257A>G MANE Select | NP_000528.1:p.Tyr86Cys |