Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995758G>T , CM000663.2:g.196995758G>T | GRCh38 |
| NC_000001.10:g.196964888G>T , CM000663.1:g.196964888G>T | GRCh37 |
| NC_000001.9:g.195231511G>T | NCBI36 |
| NG_016365.1:g.23222G>T , LRG_227:g.23222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.394G>T | ENSP00000514393.1:p.Gly132Cys | |
| ENST00000699467.1:n.718G>T | ||
| ENST00000699468.1:c.-24-356G>T | ENSP00000514394.1:n.-24-356G>T | |
| ENST00000256785.5:c.649G>T MANE Select | ENSP00000256785.4:p.Gly217Cys | |
| ENST00000256785.4:c.649G>T | ENSP00000256785.4:p.Gly217Cys | |
| NM_030787.3:c.649G>T , LRG_227t1:c.649G>T | NP_110414.1:p.Gly217Cys | |
| XM_011510020.1:c.658G>T | XP_011508322.1:p.Gly220Cys | |
| XM_011510020.2:c.658G>T | XP_011508322.1:p.Gly220Cys | |
| NM_030787.4:c.649G>T MANE Select | NP_110414.1:p.Gly217Cys |