Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688182T>G , CM000665.2:g.42688182T>G | GRCh38 |
| NC_000003.11:g.42729674T>G , CM000665.1:g.42729674T>G | GRCh37 |
| NC_000003.10:g.42704678T>G | NCBI36 |
| NG_033035.1:g.7664T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152393.4:c.1193T>G MANE Select | NP_689606.2:p.Leu398Arg |
| ENST00000287777.5:c.1193T>G MANE Select | ENSP00000287777.4:p.Leu398Arg |
| NM_152393.3:c.1193T>G | NP_689606.2:p.Leu398Arg |
| ENST00000287777.4:c.1193T>G | ENSP00000287777.4:p.Leu398Arg |
| XM_005264866.2:c.1193T>G | XP_005264923.1:p.Leu398Arg |