Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2794154G>C , CM000682.2:g.2794154G>C | GRCh38 |
| NC_000020.10:g.2774800G>C , CM000682.1:g.2774800G>C | GRCh37 |
| NC_000020.9:g.2722800G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019609.5:c.*36C>G MANE Select | NP_062555.1:n.*36C>G |
| ENST00000380605.3:c.*36C>G MANE Select | ENSP00000369979.2:n.*36C>G |
| NM_001184699.1:c.*36C>G | NP_001171628.1:n.*36C>G |
| NM_001184699.2:c.*36C>G | NP_001171628.1:n.*36C>G |
| NM_019609.4:c.*36C>G | NP_062555.1:n.*36C>G |
| ENST00000380605.2:c.*36C>G | ENSP00000369979.2:n.*36C>G |