Linked Data
ClinVar Variation Id:
5974
dbSNP Id:
rs7080536
ExAC:
10:115348046 G / A
gnomAD v2:
10-115348046-G-A
gnomAD v3:
10-113588287-G-A
gnomAD v4:
10-113588287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588287G>A , CM000672.2:g.113588287G>A | GRCh38 |
| NC_000010.10:g.115348046G>A , CM000672.1:g.115348046G>A | GRCh37 |
| NC_000010.9:g.115338036G>A | NCBI36 |
| NG_008956.1:g.40269G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351270.4:c.1601G>A MANE Select | ENSP00000277903.4:p.Gly534Glu | |
| ENST00000351270.3:c.1601G>A | ENSP00000277903.4:p.Gly534Glu | |
| ENST00000542051.5:c.1523G>A | ENSP00000443283.1:p.Gly508Glu | |
| NM_001177660.1:c.1523G>A | NP_001171131.1:p.Gly508Glu | |
| NM_004132.3:c.1601G>A | NP_004123.1:p.Gly534Glu | |
| NM_001177660.2:c.1523G>A | NP_001171131.1:p.Gly508Glu | |
| NM_004132.4:c.1601G>A | NP_004123.1:p.Gly534Glu | |
| NM_004132.5:c.1601G>A MANE Select | NP_004123.1:p.Gly534Glu | |
| NM_001177660.3:c.1523G>A | NP_001171131.1:p.Gly508Glu |