Linked Data
dbSNP Id:
rs1963634608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839709G>A , CM000677.2:g.84839709G>A | GRCh38 |
| NC_000015.9:g.85382940G>A , CM000677.1:g.85382940G>A | GRCh37 |
| NC_000015.8:g.83183944G>A | NCBI36 |
| NG_054748.1:g.28079G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258888.6:c.430G>A MANE Select | ENSP00000258888.6:p.Glu144Lys | |
| ENST00000258888.5:c.1036G>A | ENSP00000258888.5:p.Glu346Lys | |
| NM_020778.4:c.1036G>A | NP_065829.3:p.Glu346Lys | |
| NM_020778.5:c.430G>A MANE Select | NP_065829.4:p.Glu144Lys |