Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652396A>C , CM000663.2:g.171652396A>C | GRCh38 |
| NC_000001.10:g.171621536A>C , CM000663.1:g.171621536A>C | GRCh37 |
| NC_000001.9:g.169888159A>C | NCBI36 |
| NG_008859.1:g.5238T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.216T>G MANE Select | ENSP00000037502.5:p.His72Gln | |
| ENST00000638471.1:c.130+86T>G | ENSP00000491206.1:n.130+86T>G | |
| ENST00000037502.10:c.216T>G | ENSP00000037502.5:p.His72Gln | |
| ENST00000614688.1:c.216T>G | ENSP00000478680.1:p.His72Gln | |
| NM_000261.1:c.216T>G | NP_000252.1:p.His72Gln | |
| NM_000261.2:c.216T>G MANE Select | NP_000252.1:p.His72Gln |