Linked Data
ClinVar Variation Id:
2087385
ClinVar RCV Id:
RCV003017837
dbSNP Id:
rs1414160139
gnomAD v2:
19-6697504-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697493G>C , CM000681.2:g.6697493G>C | GRCh38 |
| NC_000019.9:g.6697504G>C , CM000681.1:g.6697504G>C | GRCh37 |
| NC_000019.8:g.6648504G>C | NCBI36 |
| NG_009557.1:g.28159C>G , LRG_27:g.28159C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.995C>G | ||
| ENST00000695652.1:c.2524C>G | ENSP00000512083.1:p.Gln842Glu | |
| ENST00000695653.1:c.556C>G | ENSP00000512084.1:p.Gln186Glu | |
| ENST00000695654.1:c.1771C>G | ENSP00000512085.1:p.Gln591Glu | |
| ENST00000695655.1:c.1588C>G | ENSP00000512086.1:n.1588C>G | |
| ENST00000695692.1:n.2011C>G | ||
| ENST00000245907.11:c.2647C>G MANE Select | ENSP00000245907.4:p.Gln883Glu | |
| ENST00000245907.10:c.2647C>G | ENSP00000245907.4:p.Gln883Glu | |
| ENST00000594005.1:n.223C>G | ||
| NM_000064.3:c.2647C>G | NP_000055.2:p.Gln883Glu | |
| NM_000064.4:c.2647C>G MANE Select | NP_000055.2:p.Gln883Glu |