Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143531188G= , CM000665.2:g.143531188G= | GRCh38 |
| NC_000003.11:g.143250030G= , CM000665.1:g.143250030G= | GRCh37 |
| NC_000003.10:g.144732720G= | NCBI36 |
| NG_017077.1:g.322344C= | |
| NG_017077.2:g.322344C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1089+21174C= MANE Select | ENSP00000320246.6:n.1089+21174C= | |
| ENST00000316549.10:c.1089+21174C= | ENSP00000320246.6:n.1089+21174C= | |
| NM_173653.3:c.1089+21174C= | NP_775924.1:n.1089+21174C= | |
| XM_011512703.1:c.441+21174C= | XP_011511005.1:n.441+21174C= | |
| XM_011512703.3:c.441+21174C= | XP_011511005.1:n.441+21174C= | |
| XM_017006202.2:c.1089+21174C= | XP_016861691.1:n.1089+21174C= | |
| XM_017006203.1:c.738+21174C= | XP_016861692.1:n.738+21174C= | |
| NM_173653.4:c.1089+21174C= MANE Select | NP_775924.1:n.1089+21174C= |