Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73914836G>A , CM000664.2:g.73914836G>A | GRCh38 |
| NC_000002.11:g.74141963G>A , CM000664.1:g.74141963G>A | GRCh37 |
| NC_000002.10:g.73995471G>A | NCBI36 |
| NG_034140.1:g.26871G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345517.8:c.770G>A MANE Select | ENSP00000295137.3:p.Arg257His | |
| ENST00000345517.7:c.770G>A | ENSP00000295137.3:p.Arg257His | |
| ENST00000409624.1:c.770G>A | ENSP00000386857.1:p.Arg257His | |
| ENST00000409731.7:c.641G>A | ENSP00000386929.3:p.Arg214His | |
| ENST00000438902.6:c.*835G>A | ENSP00000410706.2:n.*835G>A | |
| NM_001199893.1:c.641G>A | NP_001186822.1:p.Arg214His | |
| NM_001615.3:c.770G>A | NP_001606.1:p.Arg257His | |
| NM_001199893.2:c.641G>A | NP_001186822.1:p.Arg214His | |
| NM_001615.4:c.770G>A MANE Select | NP_001606.1:p.Arg257His |