Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072981C>T , CM000664.2:g.29072981C>T | GRCh38 |
| NC_000002.11:g.29295847C>T , CM000664.1:g.29295847C>T | GRCh37 |
| NC_000002.10:g.29149351C>T | NCBI36 |
| NG_021427.1:g.6281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1281G>A MANE Select | ENSP00000332809.4:p.Gln427= | |
| ENST00000331664.5:c.1281G>A | ENSP00000332809.4:p.Gln427= | |
| NM_001029883.2:c.1281G>A | NP_001025054.1:p.Gln427= | |
| XM_011532826.1:c.1281G>A | XP_011531128.1:p.Gln427= | |
| XR_939901.1:n.185+3814C>T | ||
| XR_939902.1:n.173+3826C>T | ||
| NM_001029883.3:c.1281G>A MANE Select | NP_001025054.1:p.Gln427= |