Linked Data
dbSNP Id:
rs1292611681
gnomAD v2:
19-6697501-G-C
gnomAD v3:
19-6697490-G-C
gnomAD v4:
19-6697490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697490G>C , CM000681.2:g.6697490G>C | GRCh38 |
| NC_000019.9:g.6697501G>C , CM000681.1:g.6697501G>C | GRCh37 |
| NC_000019.8:g.6648501G>C | NCBI36 |
| NG_009557.1:g.28162C>G , LRG_27:g.28162C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.998C>G | ||
| ENST00000695652.1:c.2527C>G | ENSP00000512083.1:p.Gln843Glu | |
| ENST00000695653.1:c.559C>G | ENSP00000512084.1:p.Gln187Glu | |
| ENST00000695654.1:c.1774C>G | ENSP00000512085.1:p.Gln592Glu | |
| ENST00000695655.1:c.1591C>G | ENSP00000512086.1:n.1591C>G | |
| ENST00000695692.1:n.2014C>G | ||
| ENST00000245907.11:c.2650C>G MANE Select | ENSP00000245907.4:p.Gln884Glu | |
| ENST00000245907.10:c.2650C>G | ENSP00000245907.4:p.Gln884Glu | |
| ENST00000594005.1:n.226C>G | ||
| NM_000064.3:c.2650C>G | NP_000055.2:p.Gln884Glu | |
| NM_000064.4:c.2650C>G MANE Select | NP_000055.2:p.Gln884Glu |