Linked Data
ClinVar Variation Id:
320085
dbSNP Id:
rs373159617
ExAC:
16:57953090 C / G
gnomAD v2:
16-57953090-C-G
gnomAD v3:
16-57919186-C-G
gnomAD v4:
16-57919186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57919186C>G , CM000678.2:g.57919186C>G | GRCh38 |
| NC_000016.9:g.57953090C>G , CM000678.1:g.57953090C>G | GRCh37 |
| NC_000016.8:g.56510591C>G | NCBI36 |
| NG_016351.1:g.56931G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1870G>C MANE Select | ENSP00000251102.8:p.Glu624Gln | |
| ENST00000251102.12:c.1870G>C | ENSP00000251102.8:p.Glu624Gln | |
| ENST00000564448.5:c.1852G>C | ENSP00000454633.1:p.Glu618Gln | |
| NM_001286130.1:c.1852G>C | NP_001273059.1:p.Glu618Gln | |
| NM_001297.4:c.1870G>C | NP_001288.3:p.Glu624Gln | |
| XM_006721134.2:c.1870G>C | XP_006721197.1:p.Glu624Gln | |
| XM_011522870.1:c.721G>C | XP_011521172.1:p.Glu241Gln | |
| XR_933629.1:n.85+1644C>G | ||
| XM_011522870.2:c.721G>C | XP_011521172.1:p.Glu241Gln | |
| NM_001286130.2:c.1852G>C | NP_001273059.1:p.Glu618Gln | |
| NM_001297.5:c.1870G>C MANE Select | NP_001288.3:p.Glu624Gln |