Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165016013T>C , CM000665.2:g.165016013T>C | GRCh38 |
| NC_000003.11:g.164733801T>C , CM000665.1:g.164733801T>C | GRCh37 |
| NC_000003.10:g.166216495T>C | NCBI36 |
| NG_017043.1:g.67483A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.3827A>G MANE Select | NP_001032.2:p.Gln1276Arg |
| ENST00000264382.8:c.3827A>G MANE Select | ENSP00000264382.3:p.Gln1276Arg |
| NM_001041.3:c.3827A>G | NP_001032.2:p.Gln1276Arg |
| ENST00000264382.7:c.3827A>G | ENSP00000264382.3:p.Gln1276Arg |
| XM_011513078.1:c.3728A>G | XP_011511380.1:p.Gln1243Arg |
| XM_011513078.2:c.3728A>G | XP_011511380.1:p.Gln1243Arg |