Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060185C>T , CM000664.2:g.219060185C>T | GRCh38 |
| NC_000002.11:g.219924907C>T , CM000664.1:g.219924907C>T | GRCh37 |
| NC_000002.10:g.219633151C>T | NCBI36 |
| NG_016741.1:g.5332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295731.7:c.283G>A MANE Select | ENSP00000295731.5:p.Glu95Lys | |
| ENST00000295731.6:c.283G>A | ENSP00000295731.5:p.Glu95Lys | |
| NM_002181.3:c.283G>A | NP_002172.2:p.Glu95Lys | |
| NM_002181.4:c.283G>A MANE Select | NP_002172.2:p.Glu95Lys |