Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101272190A>C , CM000677.2:g.101272190A>C | GRCh38 |
| NC_000015.9:g.101812395A>C , CM000677.1:g.101812395A>C | GRCh37 |
| NC_000015.8:g.99629918A>C | NCBI36 |
| NG_013322.1:g.10306T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018445.5:c.*581T>G | NP_060915.2:n.*581T>G |
| NM_203472.2:c.*14-545T>G | NP_982298.2:n.*14-545T>G |
| NM_203472.3:c.*14-545T>G | NP_982298.2:n.*14-545T>G |
| ENST00000398226.7:c.*8-545T>G | ENSP00000381282.3:n.*8-545T>G |
| ENST00000526043.1:n.2444T>G | |
| ENST00000526049.5:c.*581T>G | ENSP00000433541.1:n.*581T>G |
| ENST00000531964.5:c.*8-545T>G | ENSP00000433803.1:n.*8-545T>G |