Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1296125T>C , CM000670.2:g.1296125T>C | GRCh38 |
| NC_000008.10:g.1244385T>C , CM000670.1:g.1244385T>C | GRCh37 |
| NC_000008.9:g.1231792T>C | NCBI36 |
| NG_009409.2:g.563407T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421627.7:c.103+37242T>C | ENSP00000400258.3:n.103+37242T>C | |
| ENST00000637795.2:c.106+37242T>C MANE Select | ENSP00000489774.1:n.106+37242T>C | |
| NR_111948.1:n.2958A>G | ||
| XM_011534761.1:c.-135+37242T>C | XP_011533063.1:n.-135+37242T>C | |
| XM_011534762.1:c.-135+37242T>C | XP_011533064.1:n.-135+37242T>C | |
| NM_001346810.1:c.106+37242T>C | NP_001333739.1:n.106+37242T>C | |
| NM_001346810.2:c.106+37242T>C MANE Select | NP_001333739.1:n.106+37242T>C |