Linked Data
ClinVar Variation Id:
2896924
ClinVar RCV Id:
RCV003740753
dbSNP Id:
rs760451069
ExAC:
2:200245221 G / C
gnomAD v2:
2-200245221-G-C
gnomAD v3:
2-199380498-G-C
gnomAD v4:
2-199380498-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199380498G>C , CM000664.2:g.199380498G>C | GRCh38 |
| NC_000002.11:g.200245221G>C , CM000664.1:g.200245221G>C | GRCh37 |
| NC_000002.10:g.199953466G>C | NCBI36 |
| NG_016976.1:g.95769C>G | |
| NG_016976.2:g.95769C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428695.6:c.347-31325C>G | ENSP00000388581.1:n.347-31325C>G | |
| ENST00000700191.1:c.347-31325C>G | ENSP00000514853.1:n.347-31325C>G | |
| ENST00000700193.1:c.474-11C>G | ENSP00000514854.1:n.474-11C>G | |
| ENST00000700208.1:c.346+52840C>G | ENSP00000514860.1:n.346+52840C>G | |
| ENST00000700210.1:c.128-11C>G | ||
| ENST00000417098.6:c.474-11C>G MANE Select | ENSP00000401112.1:n.474-11C>G | |
| ENST00000260926.9:c.474-11C>G | ENSP00000260926.5:n.474-11C>G | |
| ENST00000417098.5:c.474-11C>G | ENSP00000401112.1:n.474-11C>G | |
| ENST00000428695.5:c.347-31325C>G | ENSP00000388581.1:n.347-31325C>G | |
| ENST00000443023.5:c.297-11C>G | ENSP00000388764.1:n.297-11C>G | |
| ENST00000457245.5:c.474-11C>G | ENSP00000405420.1:n.474-11C>G | |
| ENST00000484124.1:n.358-11C>G | ||
| ENST00000614512.4:c.347-31325C>G | ENSP00000483287.1:n.347-31325C>G | |
| NM_001172509.1:c.474-11C>G | NP_001165980.1:n.474-11C>G | |
| NM_001172517.1:c.474-11C>G | NP_001165988.1:n.474-11C>G | |
| NM_015265.3:c.474-11C>G | NP_056080.1:n.474-11C>G | |
| XM_005246396.1:c.300-11C>G | XP_005246453.1:n.300-11C>G | |
| XM_006712372.1:c.474-11C>G | XP_006712435.1:n.474-11C>G | |
| XM_011510840.1:c.474-11C>G | XP_011509142.1:n.474-11C>G | |
| XM_005246396.3:c.300-11C>G | XP_005246453.1:n.300-11C>G | |
| XM_011510840.3:c.474-11C>G | XP_011509142.1:n.474-11C>G | |
| XM_017003656.1:c.300-11C>G | XP_016859145.1:n.300-11C>G | |
| XM_024452767.1:c.51-11C>G | XP_024308535.1:n.51-11C>G | |
| XM_024452768.1:c.51-11C>G | XP_024308536.1:n.51-11C>G | |
| NM_001172509.2:c.474-11C>G MANE Select | NP_001165980.1:n.474-11C>G | |
| NM_015265.4:c.474-11C>G | NP_056080.1:n.474-11C>G |