Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422019T>G , CM000663.2:g.119422019T>G | GRCh38 |
| NC_000001.10:g.119964642T>G , CM000663.1:g.119964642T>G | GRCh37 |
| NC_000001.9:g.119766165T>G | NCBI36 |
| NG_013349.1:g.12089T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.518T>G MANE Select | NP_000189.1:p.Leu173Arg |
| ENST00000369416.4:c.518T>G MANE Select | ENSP00000358424.3:p.Leu173Arg |
| NM_000198.3:c.518T>G | NP_000189.1:p.Leu173Arg |
| NM_001166120.1:c.518T>G | NP_001159592.1:p.Leu173Arg |
| NM_001166120.2:c.518T>G | NP_001159592.1:p.Leu173Arg |
| ENST00000369416.3:c.518T>G | ENSP00000358424.3:p.Leu173Arg |
| ENST00000433745.5:c.518T>G | ENSP00000388292.1:p.Leu173Arg |
| ENST00000448448.2:n.462T>G | |
| ENST00000543831.5:c.518T>G | ENSP00000445122.1:p.Leu173Arg |