Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1296114A>T , CM000670.2:g.1296114A>T | GRCh38 |
| NG_009409.2:g.563396A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001346810.2:c.106+37231A>T MANE Select | NP_001333739.1:n.106+37231A>T |
| ENST00000637795.2:c.106+37231A>T MANE Select | ENSP00000489774.1:n.106+37231A>T |
| NM_001346810.1:c.106+37231A>T | NP_001333739.1:n.106+37231A>T |
| NR_111948.1:n.2969T>A | |
| ENST00000421627.7:c.103+37231A>T | ENSP00000400258.3:n.103+37231A>T |
| XM_011534761.1:c.-135+37231A>T | XP_011533063.1:n.-135+37231A>T |
| XM_011534762.1:c.-135+37231A>T | XP_011533064.1:n.-135+37231A>T |