Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180780A>G , CM000681.2:g.15180780A>G | GRCh38 |
| NC_000019.9:g.15291591A>G , CM000681.1:g.15291591A>G | GRCh37 |
| NC_000019.8:g.15152591A>G | NCBI36 |
| NG_009819.1:g.25202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3043T>C MANE Select | ENSP00000263388.1:p.Cys1015Arg | |
| ENST00000263388.6:c.3043T>C | ENSP00000263388.1:p.Cys1015Arg | |
| ENST00000601011.1:c.2884T>C | ENSP00000473138.1:p.Cys962Arg | |
| NM_000435.2:c.3043T>C | NP_000426.2:p.Cys1015Arg | |
| XM_005259924.3:c.2887T>C | XP_005259981.1:p.Cys963Arg | |
| XM_005259924.4:c.2887T>C | XP_005259981.1:p.Cys963Arg | |
| NM_000435.3:c.3043T>C MANE Select | NP_000426.2:p.Cys1015Arg |