Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114575C>G , CM000667.2:g.140114575C>G | GRCh38 |
| NC_000005.9:g.139494160C>G , CM000667.1:g.139494160C>G | GRCh37 |
| NC_000005.8:g.139474344C>G | NCBI36 |
| NG_041813.1:g.5453C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005859.5:c.394C>G MANE Select | NP_005850.1:p.Leu132Val |
| ENST00000331327.5:c.394C>G MANE Select | ENSP00000332706.3:p.Leu132Val |
| NM_005859.4:c.394C>G | NP_005850.1:p.Leu132Val |
| ENST00000331327.4:c.394C>G | ENSP00000332706.3:p.Leu132Val |
| ENST00000651386.1:c.394C>G | ENSP00000499133.1:p.Leu132Val |