Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016393T>C , CM000681.2:g.49016393T>C | GRCh38 |
| NC_000019.9:g.49519650T>C , CM000681.1:g.49519650T>C | GRCh37 |
| NC_000019.8:g.54211462T>C | NCBI36 |
| NG_011464.1:g.5698A>G | |
| NG_033041.1:g.27495T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.184-83A>G MANE Select | NP_000885.1:n.184-83A>G |
| ENST00000649238.3:c.184-83A>G MANE Select | ENSP00000497294.2:n.184-83A>G |
| NM_000894.2:c.184-83A>G | NP_000885.1:n.184-83A>G |
| ENST00000221421.6:c.184-83A>G | ENSP00000221421.1:n.184-83A>G |
| ENST00000391869.4:c.178-83A>G | ENSP00000375742.4:n.178-83A>G |
| ENST00000649284.1:n.275-83A>G | |
| XM_011526975.1:c.232-83A>G | XP_011525277.1:n.232-83A>G |