Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567038G>A , CM000685.2:g.137567038G>A | GRCh38 |
| NC_000023.10:g.136649197G>A , CM000685.1:g.136649197G>A | GRCh37 |
| NC_000023.9:g.136476863G>A | NCBI36 |
| NG_008115.1:g.5852G>A | |
| NG_008115.2:g.5912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.347G>A MANE Select | ENSP00000287538.5:p.Arg116His | |
| ENST00000287538.9:c.347G>A | ENSP00000287538.5:p.Arg116His | |
| ENST00000370606.3:c.347G>A | ENSP00000359638.3:p.Arg116His | |
| NM_003413.3:c.347G>A | NP_003404.1:p.Arg116His | |
| NM_001330661.1:c.347G>A | NP_001317590.1:p.Arg116His | |
| NM_003413.4:c.347G>A MANE Select | NP_003404.1:p.Arg116His |