Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50145489A>C , CM000676.2:g.50145489A>C | GRCh38 |
| NC_000014.8:g.50612207A>C , CM000676.1:g.50612207A>C | GRCh37 |
| NC_000014.7:g.49681957A>C | NCBI36 |
| NG_051073.1:g.91205T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2492T>G MANE Select | NP_008870.2:p.Leu831Arg |
| ENST00000216373.10:c.2492T>G MANE Select | ENSP00000216373.5:p.Leu831Arg |
| NM_006939.2:c.2492T>G | NP_008870.2:p.Leu831Arg |
| NM_006939.3:c.2492T>G | NP_008870.2:p.Leu831Arg |
| ENST00000216373.9:c.2492T>G | ENSP00000216373.5:p.Leu831Arg |
| ENST00000543680.5:c.2393T>G | ENSP00000445328.1:p.Leu798Arg |
| XM_005268021.1:c.2312T>G | XP_005268078.1:p.Leu771Arg |
| XM_011537103.1:c.2453T>G | XP_011535405.1:p.Leu818Arg |
| XM_011537104.1:c.2492T>G | XP_011535406.1:p.Leu831Arg |