Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652468C>A , CM000663.2:g.171652468C>A | GRCh38 |
| NC_000001.10:g.171621608C>A , CM000663.1:g.171621608C>A | GRCh37 |
| NC_000001.9:g.169888231C>A | NCBI36 |
| NG_008859.1:g.5166G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.144G>T MANE Select | NP_000252.1:p.Gln48His |
| ENST00000037502.11:c.144G>T MANE Select | ENSP00000037502.5:p.Gln48His |
| NM_000261.1:c.144G>T | NP_000252.1:p.Gln48His |
| ENST00000037502.10:c.144G>T | ENSP00000037502.5:p.Gln48His |
| ENST00000614688.1:c.144G>T | ENSP00000478680.1:p.Gln48His |
| ENST00000638471.1:c.130+14G>T | ENSP00000491206.1:n.130+14G>T |