Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781543C>A , CM000672.2:g.110781543C>A | GRCh38 |
| NC_000010.10:g.112541301C>A , CM000672.1:g.112541301C>A | GRCh37 |
| NC_000010.9:g.112531291C>A | NCBI36 |
| NG_021177.1:g.142147C>A , LRG_382:g.142147C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.934C>A MANE Select | ENSP00000358532.3:p.Leu312Met | |
| ENST00000369519.3:c.934C>A | ENSP00000358532.3:p.Leu312Met | |
| NM_001134363.2:c.934C>A | NP_001127835.2:p.Leu312Met | |
| XM_011539697.1:c.550C>A | XP_011537999.1:p.Leu184Met | |
| XM_017016103.2:c.769C>A | XP_016871592.1:p.Leu257Met | |
| XM_017016104.2:c.550C>A | XP_016871593.1:p.Leu184Met | |
| NM_001134363.3:c.934C>A MANE Select | NP_001127835.2:p.Leu312Met |