Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062376C>G , CM000664.2:g.29062376C>G | GRCh38 |
| NC_000002.11:g.29285242C>G , CM000664.1:g.29285242C>G | GRCh37 |
| NC_000002.10:g.29138746C>G | NCBI36 |
| NG_021427.1:g.16886G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2493G>C MANE Select | ENSP00000332809.4:n.*2493G>C | |
| ENST00000331664.5:c.6360G>C | ENSP00000332809.4:n.6360G>C | |
| NM_001029883.2:c.6360G>C | NP_001025054.1:n.6360G>C | |
| XM_011532826.1:c.*382-721G>C | XP_011531128.1:n.*382-721G>C | |
| NM_001029883.3:c.*2493G>C MANE Select | NP_001025054.1:n.*2493G>C |