Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652073A>T , CM000663.2:g.171652073A>T | GRCh38 |
| NC_000001.10:g.171621213A>T , CM000663.1:g.171621213A>T | GRCh37 |
| NC_000001.9:g.169887836A>T | NCBI36 |
| NG_008859.1:g.5561T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.539T>A MANE Select | ENSP00000037502.5:p.Leu180Gln | |
| ENST00000638471.1:c.130+409T>A | ENSP00000491206.1:n.130+409T>A | |
| ENST00000037502.10:c.539T>A | ENSP00000037502.5:p.Leu180Gln | |
| ENST00000614688.1:c.539T>A | ENSP00000478680.1:p.Leu180Gln | |
| NM_000261.1:c.539T>A | NP_000252.1:p.Leu180Gln | |
| NM_000261.2:c.539T>A MANE Select | NP_000252.1:p.Leu180Gln |