Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996056C>A , CM000663.2:g.196996056C>A | GRCh38 |
| NC_000001.10:g.196965186C>A , CM000663.1:g.196965186C>A | GRCh37 |
| NC_000001.9:g.195231809C>A | NCBI36 |
| NG_016365.1:g.23520C>A , LRG_227:g.23520C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.570C>A | ENSP00000514393.1:p.Leu190= | |
| ENST00000699467.1:n.894C>A | ||
| ENST00000699468.1:c.-24-58C>A | ENSP00000514394.1:n.-24-58C>A | |
| ENST00000256785.5:c.825C>A MANE Select | ENSP00000256785.4:p.Leu275= | |
| ENST00000256785.4:c.825C>A | ENSP00000256785.4:p.Leu275= | |
| NM_030787.3:c.825C>A , LRG_227t1:c.825C>A | NP_110414.1:p.Leu275= | |
| XM_011510020.1:c.834C>A | XP_011508322.1:p.Leu278= | |
| XM_011510020.2:c.834C>A | XP_011508322.1:p.Leu278= | |
| NM_030787.4:c.825C>A MANE Select | NP_110414.1:p.Leu275= |