Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920121T>G , CM000679.2:g.74920121T>G | GRCh38 |
| NC_000017.10:g.72916216T>G , CM000679.1:g.72916216T>G | GRCh37 |
| NC_000017.9:g.70427811T>G | NCBI36 |
| NG_007882.1:g.8136A>C | |
| NG_033062.1:g.847T>G | |
| NG_007882.2:g.8143A>C | |
| NG_033062.2:g.847T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.715A>C MANE Select | NP_775748.2:p.Lys239Gln |
| ENST00000614341.5:c.715A>C MANE Select | ENSP00000480279.1:p.Lys239Gln |
| NM_001282489.2:c.406A>C | NP_001269418.1:p.Lys136Gln |
| NM_001282489.3:c.406A>C | NP_001269418.1:p.Lys136Gln |
| NM_173477.4:c.715A>C | NP_775748.2:p.Lys239Gln |
| ENST00000579243.1:c.*314A>C | ENSP00000462568.1:n.*314A>C |
| ENST00000614341.4:c.715A>C | ENSP00000480279.1:p.Lys239Gln |
| XM_011524296.1:c.406A>C | XP_011522598.1:p.Lys136Gln |
| XM_011524296.2:c.406A>C | XP_011522598.1:p.Lys136Gln |