Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062390C= , CM000664.2:g.29062390C= | GRCh38 |
| NC_000002.11:g.29285256C= , CM000664.1:g.29285256C= | GRCh37 |
| NC_000002.10:g.29138760C= | NCBI36 |
| NG_021427.1:g.16872G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2479G= MANE Select | ENSP00000332809.4:n.*2479G= | |
| ENST00000331664.5:c.6346G= | ENSP00000332809.4:n.6346G= | |
| NM_001029883.2:c.6346G= | NP_001025054.1:n.6346G= | |
| XM_011532826.1:c.*382-735G= | XP_011531128.1:n.*382-735G= | |
| NM_001029883.3:c.*2479G= MANE Select | NP_001025054.1:n.*2479G= |