Linked Data
ClinVar Variation Id:
502654
dbSNP Id:
rs781754103
ExAC:
2:88874897 G / C
gnomAD v2:
2-88874897-G-C
gnomAD v3:
2-88575379-G-C
gnomAD v4:
2-88575379-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575379G>C , CM000664.2:g.88575379G>C | GRCh38 |
| NC_000002.11:g.88874897G>C , CM000664.1:g.88874897G>C | GRCh37 |
| NC_000002.10:g.88656012G>C | NCBI36 |
| NG_016424.1:g.57198C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.1932C>G | ||
| ENST00000682276.1:n.1549C>G | ||
| ENST00000682892.1:c.1651C>G | ENSP00000507214.1:p.Pro551Ala | |
| ENST00000682952.1:n.1743C>G | ||
| ENST00000684455.1:c.1317C>G | ||
| ENST00000684642.1:c.1501C>G | ENSP00000507355.1:p.Pro501Ala | |
| ENST00000684740.1:n.2282C>G | ||
| ENST00000303236.9:c.2104C>G MANE Select | ENSP00000307235.3:p.Pro702Ala | |
| ENST00000652099.1:c.2298C>G | ||
| ENST00000652736.1:n.1980C>G | ||
| ENST00000303236.7:c.2104C>G | ENSP00000307235.3:p.Pro702Ala | |
| ENST00000415570.1:c.1741C>G | ENSP00000412076.1:p.Pro581Ala | |
| ENST00000419748.5:c.1651C>G | ENSP00000408325.1:p.Pro551Ala | |
| ENST00000470706.1:n.30C>G | ||
| NM_001313915.1:c.1651C>G | NP_001300844.1:p.Pro551Ala | |
| NM_004836.5:c.2104C>G | NP_004827.4:p.Pro702Ala | |
| NM_004836.6:c.2104C>G | NP_004827.4:p.Pro702Ala | |
| NR_110236.1:n.1516G>C | ||
| XM_005264649.3:c.1420C>G | XP_005264706.1:p.Pro474Ala | |
| XR_939749.1:n.2383C>G | ||
| XM_017005376.2:c.1420C>G | XP_016860865.1:p.Pro474Ala | |
| NM_004836.7:c.2104C>G MANE Select | NP_004827.4:p.Pro702Ala | |
| NM_001313915.2:c.1651C>G | NP_001300844.1:p.Pro551Ala |