Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36141200T>C , CM000667.2:g.36141200T>C | GRCh38 |
| NC_000005.9:g.36141302T>C , CM000667.1:g.36141302T>C | GRCh37 |
| NC_000005.8:g.36177059T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007527.2:c.275A>G MANE Select | NP_001007528.1:p.Gln92Arg |
| ENST00000296603.5:c.275A>G MANE Select | ENSP00000296603.4:p.Gln92Arg |
| NM_001007527.1:c.275A>G | NP_001007528.1:p.Gln92Arg |
| ENST00000296603.4:c.275A>G | ENSP00000296603.4:p.Gln92Arg |
| ENST00000503535.1:n.259A>G | |
| XM_011514162.1:c.275A>G | XP_011512464.1:p.Gln92Arg |
| XM_011514162.2:c.275A>G | XP_011512464.1:p.Gln92Arg |
| XM_017010024.2:c.-561A>G | XP_016865513.1:n.-561A>G |
| XR_001742339.1:n.738A>G | |
| XR_001742340.2:n.1173A>G |