Linked Data
ClinVar Variation Id:
404131
ClinVar RCV Id:
RCV000471617
dbSNP Id:
rs1060500106
gnomAD v2:
15-73615430-C-G
gnomAD v4:
15-73323089-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323089C>G , CM000677.2:g.73323089C>G | GRCh38 |
| NC_000015.9:g.73615430C>G , CM000677.1:g.73615430C>G | GRCh37 |
| NC_000015.8:g.71402483C>G | NCBI36 |
| NG_009063.1:g.51176G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.3004G>C MANE Select | ENSP00000261917.3:p.Glu1002Gln | |
| ENST00000261917.3:c.3004G>C | ENSP00000261917.3:p.Glu1002Gln | |
| NM_005477.2:c.3004G>C | NP_005468.1:p.Glu1002Gln | |
| XM_011521148.1:c.1786G>C | XP_011519450.1:p.Glu596Gln | |
| XM_011521148.2:c.1786G>C | XP_011519450.1:p.Glu596Gln | |
| NM_005477.3:c.3004G>C MANE Select | NP_005468.1:p.Glu1002Gln |