Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11650752C>A , CM000663.2:g.11650752C>A | GRCh38 |
| NC_000001.10:g.11710809C>A , CM000663.1:g.11710809C>A | GRCh37 |
| NC_000001.9:g.11633396C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012168.6:c.105G>T MANE Select | NP_036300.2:p.Gln35His |
| ENST00000354287.5:c.105G>T MANE Select | ENSP00000346240.4:p.Gln35His |
| NM_012168.5:c.105G>T | NP_036300.2:p.Gln35His |
| ENST00000354287.4:c.105G>T | ENSP00000346240.4:p.Gln35His |
| ENST00000465901.1:c.156G>T | ENSP00000473649.1:p.Gln52His |
| ENST00000466919.1:n.287G>T | |
| ENST00000475961.1:n.222G>T | |
| ENST00000642025.1:c.19G>T |