Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731892A>G , CM000685.2:g.8731892A>G | GRCh38 |
| NC_000023.10:g.8699933A>G , CM000685.1:g.8699933A>G | GRCh37 |
| NC_000023.9:g.8659933A>G | NCBI36 |
| NG_007088.1:g.5295T>C | |
| NG_007088.2:g.5295T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262648.8:c.145T>C MANE Select | ENSP00000262648.3:p.Cys49Arg | |
| ENST00000262648.7:c.145T>C | ENSP00000262648.3:p.Cys49Arg | |
| ENST00000619786.1:c.142T>C | ENSP00000478734.1:p.Cys48Arg | |
| NM_000216.2:c.145T>C | NP_000207.2:p.Cys49Arg | |
| XM_005274501.3:c.145T>C | XP_005274558.1:p.Cys49Arg | |
| NM_000216.3:c.145T>C | NP_000207.2:p.Cys49Arg | |
| XM_005274501.4:c.145T>C | XP_005274558.1:p.Cys49Arg | |
| NM_000216.4:c.145T>C MANE Select | NP_000207.2:p.Cys49Arg |