Linked Data
ClinVar Variation Id:
1634018
ClinVar RCV Id:
RCV002130546
dbSNP Id:
rs201203984
ExAC:
11:68580061 G / C
gnomAD v2:
11-68580061-G-C
gnomAD v3:
11-68812593-G-C
gnomAD v4:
11-68812593-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68812593G>C , CM000673.2:g.68812593G>C | GRCh38 |
| NC_000011.9:g.68580061G>C , CM000673.1:g.68580061G>C | GRCh37 |
| NC_000011.8:g.68336637G>C | NCBI36 |
| NG_011801.1:g.34339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.142-17C>G MANE Select | ENSP00000265641.4:n.142-17C>G | |
| ENST00000265641.9:c.142-17C>G | ENSP00000265641.4:n.142-17C>G | |
| ENST00000376618.6:c.142-17C>G | ENSP00000365803.2:n.142-17C>G | |
| ENST00000539743.5:c.142-17C>G | ENSP00000446108.1:n.142-17C>G | |
| ENST00000540367.5:c.142-17C>G | ENSP00000439084.1:n.142-17C>G | |
| ENST00000561996.1:c.142-17C>G | ENSP00000457663.1:n.142-17C>G | |
| ENST00000565318.5:c.142-17C>G | ENSP00000457826.1:n.142-17C>G | |
| ENST00000569129.5:c.142-17C>G | ENSP00000455116.1:n.142-17C>G | |
| NM_001031847.2:c.142-17C>G | NP_001027017.1:n.142-17C>G | |
| NM_001876.3:c.142-17C>G | NP_001867.2:n.142-17C>G | |
| XM_005273762.1:c.238-17C>G | XP_005273819.1:n.238-17C>G | |
| XM_005273763.1:c.238-17C>G | XP_005273820.1:n.238-17C>G | |
| XM_005273762.3:c.238-17C>G | XP_005273819.1:n.238-17C>G | |
| XM_017017220.1:c.142-17C>G | XP_016872709.1:n.142-17C>G | |
| NM_001876.4:c.142-17C>G MANE Select | NP_001867.2:n.142-17C>G | |
| NM_001031847.3:c.142-17C>G | NP_001027017.1:n.142-17C>G |