Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1296124T>A , CM000670.2:g.1296124T>A | GRCh38 |
| NC_000008.10:g.1244384T>A , CM000670.1:g.1244384T>A | GRCh37 |
| NC_000008.9:g.1231791T>A | NCBI36 |
| NG_009409.2:g.563406T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421627.7:c.103+37241T>A | ENSP00000400258.3:n.103+37241T>A | |
| ENST00000637795.2:c.106+37241T>A MANE Select | ENSP00000489774.1:n.106+37241T>A | |
| NR_111948.1:n.2959A>T | ||
| XM_011534761.1:c.-135+37241T>A | XP_011533063.1:n.-135+37241T>A | |
| XM_011534762.1:c.-135+37241T>A | XP_011533064.1:n.-135+37241T>A | |
| NM_001346810.1:c.106+37241T>A | NP_001333739.1:n.106+37241T>A | |
| NM_001346810.2:c.106+37241T>A MANE Select | NP_001333739.1:n.106+37241T>A |