Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072717T>C , CM000664.2:g.29072717T>C | GRCh38 |
| NC_000002.11:g.29295583T>C , CM000664.1:g.29295583T>C | GRCh37 |
| NC_000002.10:g.29149087T>C | NCBI36 |
| NG_021427.1:g.6545A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.1545A>G MANE Select | NP_001025054.1:p.Gln515= |
| ENST00000331664.6:c.1545A>G MANE Select | ENSP00000332809.4:p.Gln515= |
| NM_001029883.2:c.1545A>G | NP_001025054.1:p.Gln515= |
| ENST00000331664.5:c.1545A>G | ENSP00000332809.4:p.Gln515= |
| XM_011532826.1:c.1545A>G | XP_011531128.1:p.Gln515= |
| XR_939901.1:n.185+3550T>C | |
| XR_939902.1:n.173+3562T>C |