Linked Data
dbSNP Id:
rs1003561302
gnomAD v2:
11-128735430-G-C
gnomAD v3:
11-128865535-G-C
gnomAD v4:
11-128865535-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128865535G>C , CM000673.2:g.128865535G>C | GRCh38 |
| NC_000011.9:g.128735430G>C , CM000673.1:g.128735430G>C | GRCh37 |
| NC_000011.8:g.128240640G>C | NCBI36 |
| NG_009379.1:g.6839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.-192+1638C>G MANE Select | ENSP00000376434.1:n.-192+1638C>G | |
| ENST00000324003.3:c.-192+1638C>G | ENSP00000316136.3:n.-192+1638C>G | |
| ENST00000324036.7:c.-192+988C>G | ENSP00000316233.3:n.-192+988C>G | |
| ENST00000392665.6:c.-22+1638C>G | ENSP00000376433.2:n.-22+1638C>G | |
| ENST00000392666.5:c.-192+1638C>G | ENSP00000376434.1:n.-192+1638C>G | |
| ENST00000440599.6:c.-22+988C>G | ENSP00000406320.2:n.-22+988C>G | |
| ENST00000531562.1:n.124+1638C>G | ||
| NM_153764.2:c.-22+1638C>G | NP_722448.1:n.-22+1638C>G | |
| NM_153765.2:c.30+988C>G | NP_722449.3:n.30+988C>G | |
| NM_153766.2:c.-192+1638C>G | NP_722450.1:n.-192+1638C>G | |
| NM_153767.3:c.-192+988C>G | NP_722451.1:n.-192+988C>G | |
| XR_001748442.1:n.3533-1215G>C | ||
| NM_153764.3:c.-22+1638C>G | NP_722448.1:n.-22+1638C>G | |
| NM_153765.3:c.30+988C>G | NP_722449.3:n.30+988C>G | |
| NM_153766.3:c.-192+1638C>G MANE Select | NP_722450.1:n.-192+1638C>G | |
| NM_153767.4:c.-192+988C>G | NP_722451.1:n.-192+988C>G |