Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832073A>C , CM000663.2:g.92832073A>C | GRCh38 |
| NC_000001.10:g.93297630A>C , CM000663.1:g.93297630A>C | GRCh37 |
| NC_000001.9:g.93070218A>C | NCBI36 |
| NG_011779.1:g.5037A>C | |
| NG_033051.1:g.134450T>G | |
| NG_011779.2:g.5088A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.-42A>C MANE Select | ENSP00000359345.2:n.-42A>C | |
| ENST00000645119.1:c.-42A>C | ENSP00000493811.1:n.-42A>C | |
| ENST00000645300.1:c.-122A>C | ENSP00000495589.1:n.-122A>C | |
| ENST00000370321.7:c.-42A>C | ENSP00000359345.2:n.-42A>C | |
| ENST00000470843.5:c.-42A>C | ENSP00000473675.1:n.-42A>C | |
| NM_000969.3:c.-42A>C | NP_000960.2:n.-42A>C | |
| NM_000969.5:c.-42A>C MANE Select | NP_000960.2:n.-42A>C | |
| NR_146333.1:n.88A>C |