Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919616A>C , CM000679.2:g.74919616A>C | GRCh38 |
| NC_000017.10:g.72915711A>C , CM000679.1:g.72915711A>C | GRCh37 |
| NC_000017.9:g.70427306A>C | NCBI36 |
| NG_007882.1:g.8641T>G | |
| NG_033062.1:g.342A>C | |
| NG_007882.2:g.8648T>G | |
| NG_033062.2:g.342A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1220T>G MANE Select | ENSP00000480279.1:p.Leu407Arg | |
| ENST00000579243.1:c.*819T>G | ENSP00000462568.1:n.*819T>G | |
| ENST00000614341.4:c.1220T>G | ENSP00000480279.1:p.Leu407Arg | |
| NM_001282489.2:c.911T>G | NP_001269418.1:p.Leu304Arg | |
| NM_173477.4:c.1220T>G | NP_775748.2:p.Leu407Arg | |
| XM_011524296.1:c.911T>G | XP_011522598.1:p.Leu304Arg | |
| XM_011524296.2:c.911T>G | XP_011522598.1:p.Leu304Arg | |
| NM_173477.5:c.1220T>G MANE Select | NP_775748.2:p.Leu407Arg | |
| NM_001282489.3:c.911T>G | NP_001269418.1:p.Leu304Arg |