Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026408C= , CM000683.2:g.33026408C= | GRCh38 |
| NC_000021.8:g.34398716C= , CM000683.1:g.34398716C= | GRCh37 |
| NC_000021.7:g.33320586C= | NCBI36 |
| NG_011834.1:g.5478C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005806.4:c.-63+382C= MANE Select | NP_005797.1:n.-63+382C= |
| ENST00000382357.4:c.-63+382C= MANE Select | ENSP00000371794.3:n.-63+382C= |
| NM_005806.3:c.-63+382C= | NP_005797.1:n.-63+382C= |
| ENST00000333337.3:c.-455C= | ENSP00000331040.3:n.-455C= |
| ENST00000382357.3:c.-63+382C= | ENSP00000371794.3:n.-63+382C= |
| ENST00000430860.1:c.-63+148C= | ENSP00000391183.1:n.-63+148C= |
| XM_005260908.1:c.-63+148C= | XP_005260965.1:n.-63+148C= |