Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474302C>T , CM000677.2:g.48474302C>T | GRCh38 |
| NC_000015.9:g.48766499C>T , CM000677.1:g.48766499C>T | GRCh37 |
| NC_000015.8:g.46553791C>T | NCBI36 |
| NG_008805.2:g.176487G>A , LRG_778:g.176487G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.4163G>A MANE Select | NP_000129.3:p.Arg1388His |
| ENST00000316623.10:c.4163G>A MANE Select | ENSP00000325527.5:p.Arg1388His |
| NM_000138.4:c.4163G>A , LRG_778t1:c.4163G>A | NP_000129.3:p.Arg1388His |
| ENST00000316623.9:c.4163G>A | ENSP00000325527.5:p.Arg1388His |
| ENST00000537463.6:c.835G>A | ENSP00000440294.2:p.Ala279Thr |
| ENST00000559133.6:c.4163G>A | ENSP00000453958.2:p.Arg1388His |
| ENST00000674301.2:c.4163G>A | ENSP00000501333.2:p.Arg1388His |
| ENST00000684448.1:n.2837G>A |