Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143493496G>A , CM000665.2:g.143493496G>A | GRCh38 |
| NC_000003.11:g.143212338G>A , CM000665.1:g.143212338G>A | GRCh37 |
| NC_000003.10:g.144695028G>A | NCBI36 |
| NG_017077.1:g.360036C>T | |
| NG_017077.2:g.360036C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173653.4:c.1315+157C>T MANE Select | NP_775924.1:n.1315+157C>T |
| ENST00000316549.11:c.1315+157C>T MANE Select | ENSP00000320246.6:n.1315+157C>T |
| NM_173653.3:c.1315+157C>T | NP_775924.1:n.1315+157C>T |
| ENST00000316549.10:c.1315+157C>T | ENSP00000320246.6:n.1315+157C>T |
| XM_011512703.1:c.667+157C>T | XP_011511005.1:n.667+157C>T |
| XM_011512703.3:c.667+157C>T | XP_011511005.1:n.667+157C>T |
| XM_017006202.2:c.1315+157C>T | XP_016861691.1:n.1315+157C>T |
| XM_017006203.1:c.964+157C>T | XP_016861692.1:n.964+157C>T |