Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176877543T>A , CM000667.2:g.176877543T>A | GRCh38 |
| NC_000005.9:g.176304544T>A , CM000667.1:g.176304544T>A | GRCh37 |
| NC_000005.8:g.176237150T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133369.3:c.1475T>A MANE Select | NP_588610.2:p.Leu492Gln |
| ENST00000329542.9:c.1475T>A MANE Select | ENSP00000332737.4:p.Leu492Gln |
| NM_133369.2:c.1475T>A | NP_588610.2:p.Leu492Gln |
| ENST00000329542.8:c.1475T>A | ENSP00000332737.4:p.Leu492Gln |
| ENST00000509580.2:c.1643T>A | ENSP00000421795.2:p.Leu548Gln |
| XM_006714927.1:c.1475T>A | XP_006714990.1:p.Leu492Gln |
| XM_006714928.1:c.1643T>A | XP_006714991.1:p.Leu548Gln |
| XM_011534686.1:c.1643T>A | XP_011532988.1:p.Leu548Gln |