Linked Data
ClinVar Variation Id:
354640
ClinVar RCV Id:
RCV001672668
dbSNP Id:
rs6234
ExAC:
5:95728974 G / C
gnomAD v2:
5-95728974-G-C
gnomAD v3:
5-96393270-G-C
gnomAD v4:
5-96393270-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393270G>C , CM000667.2:g.96393270G>C | GRCh38 |
| NC_000005.9:g.95728974G>C , CM000667.1:g.95728974G>C | GRCh37 |
| NC_000005.8:g.95754730G>C | NCBI36 |
| NG_021161.1:g.45012C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311106.8:c.1993C>G MANE Select | ENSP00000308024.2:p.Gln665Glu | |
| ENST00000311106.7:c.1993C>G | ENSP00000308024.2:p.Gln665Glu | |
| ENST00000508626.5:c.1852C>G | ENSP00000421600.1:p.Gln618Glu | |
| ENST00000513085.1:n.1136C>G | ||
| NM_000439.4:c.1993C>G | NP_000430.3:p.Gln665Glu | |
| NM_001177875.1:c.1852C>G | NP_001171346.1:p.Gln618Glu | |
| NR_130776.1:n.354+13618G>C | ||
| NM_000439.5:c.1993C>G MANE Select | NP_000430.3:p.Gln665Glu | |
| NM_001177875.2:c.1852C>G | NP_001171346.1:p.Gln618Glu |