Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016009G>C , CM000681.2:g.49016009G>C | GRCh38 |
| NC_000019.9:g.49519266G>C , CM000681.1:g.49519266G>C | GRCh37 |
| NC_000019.8:g.54211078G>C | NCBI36 |
| NG_011464.1:g.6082C>G | |
| NG_033041.1:g.27111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.*59C>G MANE Select | ENSP00000497294.2:n.*59C>G | |
| ENST00000221421.6:c.485C>G | ENSP00000221421.1:n.485C>G | |
| NM_000894.2:c.*59C>G | NP_000885.1:n.*59C>G | |
| XM_011526975.1:c.*59C>G | XP_011525277.1:n.*59C>G | |
| NM_000894.3:c.*59C>G MANE Select | NP_000885.1:n.*59C>G |