Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86085020G= , CM000671.2:g.86085020G= | GRCh38 |
| NC_000009.11:g.88699935G= , CM000671.1:g.88699935G= | GRCh37 |
| NC_000009.10:g.87889755G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.-21-5679C= | ENSP00000373363.3:n.-21-5679C= | |
| ENST00000388712.7:c.-21-5679C= MANE Select | ENSP00000373364.3:n.-21-5679C= | |
| ENST00000466178.1:c.-122C= | ENSP00000418155.1:n.-122C= | |
| ENST00000472919.1:n.150-5679C= | ||
| NM_016548.3:c.-21-5679C= | NP_057632.2:n.-21-5679C= | |
| NM_177937.2:c.-21-5679C= | NP_808800.1:n.-21-5679C= | |
| NM_016548.4:c.-21-5679C= MANE Select | NP_057632.2:n.-21-5679C= | |
| NM_177937.3:c.-21-5679C= | NP_808800.1:n.-21-5679C= |