Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996039G>A , CM000663.2:g.196996039G>A | GRCh38 |
| NC_000001.10:g.196965169G>A , CM000663.1:g.196965169G>A | GRCh37 |
| NC_000001.9:g.195231792G>A | NCBI36 |
| NG_016365.1:g.23503G>A , LRG_227:g.23503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.553G>A | ENSP00000514393.1:p.Gly185Arg | |
| ENST00000699467.1:n.877G>A | ||
| ENST00000699468.1:c.-24-75G>A | ENSP00000514394.1:n.-24-75G>A | |
| ENST00000256785.5:c.808G>A MANE Select | ENSP00000256785.4:p.Gly270Arg | |
| ENST00000256785.4:c.808G>A | ENSP00000256785.4:p.Gly270Arg | |
| NM_030787.3:c.808G>A , LRG_227t1:c.808G>A | NP_110414.1:p.Gly270Arg | |
| XM_011510020.1:c.817G>A | XP_011508322.1:p.Gly273Arg | |
| XM_011510020.2:c.817G>A | XP_011508322.1:p.Gly273Arg | |
| NM_030787.4:c.808G>A MANE Select | NP_110414.1:p.Gly270Arg |