Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404783C= , CM000665.2:g.190404783C= | GRCh38 |
| NC_000003.11:g.190122572C= , CM000665.1:g.190122572C= | GRCh37 |
| NC_000003.10:g.191605266C= | NCBI36 |
| NG_008149.1:g.21732C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.239C= MANE Select | ENSP00000264734.3:p.Ala80= | |
| ENST00000456423.2:c.115-5120C= | ENSP00000414136.2:n.115-5120C= | |
| ENST00000264734.2:c.449C= | ENSP00000264734.2:p.Ala150= | |
| ENST00000456423.1:c.325-5120C= | ENSP00000414136.1:n.325-5120C= | |
| ENST00000468220.1:n.431C= | ||
| NM_006580.3:c.449C= | NP_006571.1:p.Ala150= | |
| NM_001378492.1:c.239C= | NP_001365421.1:p.Ala80= | |
| NM_001378493.1:c.239C= | NP_001365422.1:p.Ala80= | |
| NM_006580.4:c.239C= MANE Select | NP_006571.2:p.Ala80= |