Linked Data
ClinVar Variation Id:
1184607
ClinVar RCV Id:
RCV001542783
dbSNP Id:
rs1363034255
gnomAD v2:
16-2035986-A-G
gnomAD v4:
16-1985985-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985985A>G , CM000678.2:g.1985985A>G | GRCh38 |
| NC_000016.9:g.2035986A>G , CM000678.1:g.2035986A>G | GRCh37 |
| NC_000016.8:g.1975987A>G | NCBI36 |
| NG_016288.1:g.6837A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.350A>G | ENSP00000455885.1:p.Asp117Gly | |
| ENST00000248114.7:c.575A>G MANE Select | ENSP00000248114.6:p.Asp192Gly | |
| ENST00000248114.6:c.575A>G | ENSP00000248114.6:p.Asp192Gly | |
| ENST00000565658.1:n.732A>G | ||
| ENST00000567719.1:c.350A>G | ENSP00000455885.1:p.Asp117Gly | |
| ENST00000569451.1:c.*48A>G | ENSP00000456432.1:n.*48A>G | |
| NM_005262.2:c.575A>G | NP_005253.3:p.Asp192Gly | |
| NM_005262.3:c.575A>G MANE Select | NP_005253.3:p.Asp192Gly |