Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995731T>C , CM000663.2:g.196995731T>C | GRCh38 |
| NC_000001.10:g.196964861T>C , CM000663.1:g.196964861T>C | GRCh37 |
| NC_000001.9:g.195231484T>C | NCBI36 |
| NG_016365.1:g.23195T>C , LRG_227:g.23195T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030787.4:c.622T>C MANE Select | NP_110414.1:p.Cys208Arg |
| ENST00000256785.5:c.622T>C MANE Select | ENSP00000256785.4:p.Cys208Arg |
| NM_030787.3:c.622T>C , LRG_227t1:c.622T>C | NP_110414.1:p.Cys208Arg |
| ENST00000256785.4:c.622T>C | ENSP00000256785.4:p.Cys208Arg |
| ENST00000699466.1:c.367T>C | ENSP00000514393.1:p.Cys123Arg |
| ENST00000699467.1:n.691T>C | |
| ENST00000699468.1:c.-24-383T>C | ENSP00000514394.1:n.-24-383T>C |
| XM_011510020.1:c.631T>C | XP_011508322.1:p.Cys211Arg |
| XM_011510020.2:c.631T>C | XP_011508322.1:p.Cys211Arg |