Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996071T>G , CM000663.2:g.196996071T>G | GRCh38 |
| NC_000001.10:g.196965201T>G , CM000663.1:g.196965201T>G | GRCh37 |
| NC_000001.9:g.195231824T>G | NCBI36 |
| NG_016365.1:g.23535T>G , LRG_227:g.23535T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.585T>G | ENSP00000514393.1:p.Val195= | |
| ENST00000699467.1:n.909T>G | ||
| ENST00000699468.1:c.-24-43T>G | ENSP00000514394.1:n.-24-43T>G | |
| ENST00000256785.5:c.840T>G MANE Select | ENSP00000256785.4:p.Val280= | |
| ENST00000256785.4:c.840T>G | ENSP00000256785.4:p.Val280= | |
| NM_030787.3:c.840T>G , LRG_227t1:c.840T>G | NP_110414.1:p.Val280= | |
| XM_011510020.1:c.849T>G | XP_011508322.1:p.Val283= | |
| XM_011510020.2:c.849T>G | XP_011508322.1:p.Val283= | |
| NM_030787.4:c.840T>G MANE Select | NP_110414.1:p.Val280= |