Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214614981G>A , CM000663.2:g.214614981G>A | GRCh38 |
| NC_000001.10:g.214788324G>A , CM000663.1:g.214788324G>A | GRCh37 |
| NC_000001.9:g.212854947G>A | NCBI36 |
| NG_046787.1:g.16803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706764.1:n.490G>A | ||
| ENST00000706765.1:c.312G>A | ENSP00000516538.1:p.Leu104= | |
| ENST00000366955.8:c.312G>A MANE Select | ENSP00000355922.3:p.Leu104= | |
| ENST00000366955.7:c.312G>A | ENSP00000355922.3:p.Leu104= | |
| ENST00000464322.5:n.480G>A | ||
| NM_016343.3:c.312G>A | NP_057427.3:p.Leu104= | |
| XM_011509082.1:c.312G>A | XP_011507384.1:p.Leu104= | |
| XM_011509082.3:c.312G>A | XP_011507384.1:p.Leu104= | |
| XM_017000086.2:c.312G>A | XP_016855575.1:p.Leu104= | |
| NM_016343.4:c.312G>A MANE Select | NP_057427.3:p.Leu104= |