Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576085C>G , CM000670.2:g.86576085C>G | GRCh38 |
| NC_000008.10:g.87588313C>G , CM000670.1:g.87588313C>G | GRCh37 |
| NC_000008.9:g.87657429C>G | NCBI36 |
| NG_016980.1:g.172591G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2149G>C MANE Select | ENSP00000316605.5:p.Glu717Gln | |
| ENST00000681546.1:n.1969G>C | ||
| ENST00000681746.1:c.*560G>C | ENSP00000505959.1:n.*560G>C | |
| ENST00000320005.5:c.2149G>C | ENSP00000316605.5:p.Glu717Gln | |
| ENST00000517327.5:c.276+2604G>C | ENSP00000428329.1:n.276+2604G>C | |
| NM_019098.4:c.2149G>C | NP_061971.3:p.Glu717Gln | |
| XM_011517138.1:c.1735G>C | XP_011515440.1:p.Glu579Gln | |
| XM_011517138.2:c.1735G>C | XP_011515440.1:p.Glu579Gln | |
| NM_019098.5:c.2149G>C MANE Select | NP_061971.3:p.Glu717Gln |