Linked Data
ClinVar Variation Id:
362731
dbSNP Id:
rs199638838
ExAC:
8:27634142 G / A
gnomAD v2:
8-27634142-G-A
gnomAD v3:
8-27776625-G-A
gnomAD v4:
8-27776625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27776625G>A , CM000670.2:g.27776625G>A | GRCh38 |
| NC_000008.10:g.27634142G>A , CM000670.1:g.27634142G>A | GRCh37 |
| NC_000008.9:g.27690061G>A | NCBI36 |
| NG_008117.1:g.7085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.317G>A MANE Select | ENSP00000306999.8:p.Arg106Lys | |
| ENST00000305188.12:c.317G>A | ENSP00000306999.8:p.Arg106Lys | |
| ENST00000519637.1:c.317G>A | ENSP00000428027.1:p.Arg106Lys | |
| ENST00000522378.5:c.317G>A | ENSP00000428928.1:p.Arg106Lys | |
| ENST00000523566.5:c.317G>A | ENSP00000428435.1:p.Arg106Lys | |
| ENST00000523910.1:n.116G>A | ||
| ENST00000524293.1:n.335G>A | ||
| NM_001017420.2:c.317G>A | NP_001017420.1:p.Arg106Lys | |
| XM_011544421.1:c.317G>A | XP_011542723.1:p.Arg106Lys | |
| XM_011544422.1:c.317G>A | XP_011542724.1:p.Arg106Lys | |
| XR_949378.1:n.401G>A | ||
| XR_949379.1:n.401G>A | ||
| XM_011544421.2:c.317G>A | XP_011542723.1:p.Arg106Lys | |
| XM_011544422.2:c.317G>A | XP_011542724.1:p.Arg106Lys | |
| XR_949378.3:n.401G>A | ||
| NM_001017420.3:c.317G>A MANE Select | NP_001017420.1:p.Arg106Lys |