Linked Data
ClinVar Variation Id:
725
ClinVar RCV Id:
RCV000000761
dbSNP Id:
rs1799931
ExAC:
8:18258370 G / A
gnomAD v2:
8-18258370-G-A
gnomAD v3:
8-18400860-G-A
gnomAD v4:
8-18400860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400860G>A , CM000670.2:g.18400860G>A | GRCh38 |
| NC_000008.10:g.18258370G>A , CM000670.1:g.18258370G>A | GRCh37 |
| NC_000008.9:g.18302650G>A | NCBI36 |
| NG_012246.1:g.14616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.857G>A MANE Select | ENSP00000286479.3:p.Gly286Glu | |
| ENST00000286479.3:c.857G>A | ENSP00000286479.3:p.Gly286Glu | |
| ENST00000520116.1:c.467G>A | ENSP00000428416.1:p.Gly156Glu | |
| NM_000015.2:c.857G>A | NP_000006.2:p.Gly286Glu | |
| XM_011544358.1:c.857G>A | XP_011542660.1:p.Gly286Glu | |
| XM_017012938.1:c.857G>A | XP_016868427.1:p.Gly286Glu | |
| NM_000015.3:c.857G>A MANE Select | NP_000006.2:p.Gly286Glu |