Linked Data
ClinVar Variation Id:
1945385
dbSNP Id:
rs374848187
ExAC:
3:12632329 A / C
gnomAD v2:
3-12632329-A-C
gnomAD v4:
3-12590830-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590830A>C , CM000665.2:g.12590830A>C | GRCh38 |
| NC_000003.11:g.12632329A>C , CM000665.1:g.12632329A>C | GRCh37 |
| NC_000003.10:g.12607329A>C | NCBI36 |
| NG_007467.1:g.78350T>G , LRG_413:g.78350T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1003T>G | ENSP00000401088.1:n.*1003T>G | |
| ENST00000432427.3:c.655T>G | ||
| ENST00000460610.2:n.132T>G | ||
| ENST00000465826.6:n.929T>G | ||
| ENST00000475353.2:n.1260T>G | ||
| ENST00000494557.2:n.1149T>G | ||
| ENST00000684903.1:c.*1015T>G | ENSP00000508612.1:n.*1015T>G | |
| ENST00000685348.1:c.*1015T>G | ENSP00000510285.1:n.*1015T>G | |
| ENST00000685437.1:c.1239T>G | ENSP00000508794.1:p.Ile413Met | |
| ENST00000685653.1:c.1338T>G | ENSP00000509968.1:p.Ile446Met | |
| ENST00000685738.1:c.*302T>G | ENSP00000510156.1:n.*302T>G | |
| ENST00000686409.1:n.2389T>G | ||
| ENST00000686455.1:n.1701T>G | ||
| ENST00000686762.1:c.1338T>G | ENSP00000509767.1:p.Ile446Met | |
| ENST00000687257.1:n.1574T>G | ||
| ENST00000687326.1:c.*272T>G | ENSP00000509665.1:n.*272T>G | |
| ENST00000687505.1:n.1456T>G | ||
| ENST00000687923.1:c.1227T>G | ENSP00000510255.1:p.Ile409Met | |
| ENST00000687940.1:n.1715T>G | ||
| ENST00000688269.1:n.1934T>G | ||
| ENST00000688326.1:c.771T>G | ||
| ENST00000688444.1:n.1664T>G | ||
| ENST00000688543.1:c.1239T>G | ENSP00000509612.1:p.Ile413Met | |
| ENST00000688625.1:c.*916T>G | ENSP00000509522.1:n.*916T>G | |
| ENST00000688803.1:n.1569T>G | ||
| ENST00000688914.1:n.324T>G | ||
| ENST00000689097.1:c.*1015T>G | ENSP00000509756.1:n.*1015T>G | |
| ENST00000689389.1:c.1193+878T>G | ENSP00000510213.1:n.1193+878T>G | |
| ENST00000689418.1:c.*1015T>G | ENSP00000509467.1:n.*1015T>G | |
| ENST00000689481.1:c.*1015T>G | ENSP00000510248.1:n.*1015T>G | |
| ENST00000689540.1:n.1488T>G | ||
| ENST00000689876.1:c.1338T>G | ENSP00000508535.1:p.Ile446Met | |
| ENST00000689914.1:c.*272T>G | ENSP00000509847.1:n.*272T>G | |
| ENST00000690397.1:c.1227T>G | ENSP00000508730.1:p.Ile409Met | |
| ENST00000690460.1:c.1326T>G | ENSP00000509106.1:p.Ile442Met | |
| ENST00000690585.1:c.230T>G | ||
| ENST00000690625.1:n.2374T>G | ||
| ENST00000691396.1:c.*1190T>G | ENSP00000510712.1:n.*1190T>G | |
| ENST00000691724.1:c.*295T>G | ENSP00000509255.1:n.*295T>G | |
| ENST00000691779.1:c.*916T>G | ENSP00000508592.1:n.*916T>G | |
| ENST00000691888.1:c.230T>G | ||
| ENST00000691899.1:c.1338T>G | ENSP00000508763.1:p.Ile446Met | |
| ENST00000692069.1:n.1904T>G | ||
| ENST00000692093.1:c.1239T>G | ENSP00000509669.1:p.Ile413Met | |
| ENST00000692311.1:n.2162T>G | ||
| ENST00000692558.1:n.1703T>G | ||
| ENST00000692773.1:c.*1075T>G | ENSP00000509055.1:n.*1075T>G | |
| ENST00000692830.1:c.*1083T>G | ENSP00000509461.1:n.*1083T>G | |
| ENST00000693069.1:c.*272T>G | ENSP00000510072.1:n.*272T>G | |
| ENST00000693312.1:c.1113T>G | ENSP00000508686.1:p.Ile371Met | |
| ENST00000693664.1:c.1338T>G | ENSP00000509614.1:p.Ile446Met | |
| ENST00000693705.1:c.*1015T>G | ENSP00000510697.1:n.*1015T>G | |
| ENST00000251849.9:c.1338T>G MANE Select | ENSP00000251849.4:p.Ile446Met | |
| ENST00000442415.7:c.1398T>G | ENSP00000401888.2:p.Ile466Met | |
| ENST00000251849.8:c.1338T>G | ENSP00000251849.4:p.Ile446Met | |
| ENST00000423275.5:c.*1015T>G | ENSP00000401088.1:n.*1015T>G | |
| ENST00000432427.2:c.975T>G | ENSP00000398591.2:p.Ile325Met | |
| ENST00000442415.6:c.1398T>G | ENSP00000401888.2:p.Ile466Met | |
| ENST00000460610.1:n.295T>G | ||
| ENST00000465826.5:n.695T>G | ||
| ENST00000475353.1:n.506T>G | ||
| ENST00000494557.1:n.354T>G | ||
| NM_002880.3:c.1338T>G , LRG_413t1:c.1338T>G | NP_002871.1:p.Ile446Met | |
| XM_005265355.1:c.1338T>G | XP_005265412.1:p.Ile446Met | |
| XM_005265357.1:c.1239T>G | XP_005265414.1:p.Ile413Met | |
| XM_005265358.3:c.1095T>G | XP_005265415.1:p.Ile365Met | |
| XM_005265359.3:c.996T>G | XP_005265416.1:p.Ile332Met | |
| XM_005265360.1:c.1338T>G | XP_005265417.1:p.Ile446Met | |
| XM_011533974.1:c.1338T>G | XP_011532276.1:p.Ile446Met | |
| XM_011533975.1:c.1095T>G | XP_011532277.1:p.Ile365Met | |
| NM_001354689.1:c.1398T>G | NP_001341618.1:p.Ile466Met | |
| NM_001354690.1:c.1338T>G | NP_001341619.1:p.Ile446Met | |
| NM_001354691.1:c.1095T>G | NP_001341620.1:p.Ile365Met | |
| NM_001354692.1:c.1095T>G | NP_001341621.1:p.Ile365Met | |
| NM_001354693.1:c.1239T>G | NP_001341622.1:p.Ile413Met | |
| NM_001354694.1:c.1155T>G | NP_001341623.1:p.Ile385Met | |
| NM_001354695.1:c.996T>G | NP_001341624.1:p.Ile332Met | |
| NR_148940.1:n.1866T>G | ||
| NR_148941.1:n.1812T>G | ||
| NR_148942.1:n.1751T>G | ||
| XM_011533974.3:c.1338T>G | XP_011532276.1:p.Ile446Met | |
| XM_017006966.1:c.1239T>G | XP_016862455.1:p.Ile413Met | |
| NM_001354689.3:c.1398T>G | NP_001341618.1:p.Ile466Met | |
| NM_001354690.2:c.1338T>G | NP_001341619.1:p.Ile446Met | |
| NM_001354691.2:c.1095T>G | NP_001341620.1:p.Ile365Met | |
| NM_001354692.2:c.1095T>G | NP_001341621.1:p.Ile365Met | |
| NM_001354693.2:c.1239T>G | NP_001341622.1:p.Ile413Met | |
| NM_001354694.2:c.1155T>G | NP_001341623.1:p.Ile385Met | |
| NM_001354695.2:c.996T>G | NP_001341624.1:p.Ile332Met | |
| NR_148940.2:n.1782T>G | ||
| NR_148941.2:n.1728T>G | ||
| NR_148942.2:n.1667T>G | ||
| NM_001354690.3:c.1338T>G | NP_001341619.1:p.Ile446Met | |
| NM_001354691.3:c.1095T>G | NP_001341620.1:p.Ile365Met | |
| NM_001354692.3:c.1095T>G | NP_001341621.1:p.Ile365Met | |
| NM_001354693.3:c.1239T>G | NP_001341622.1:p.Ile413Met | |
| NM_001354694.3:c.1155T>G | NP_001341623.1:p.Ile385Met | |
| NM_001354695.3:c.996T>G | NP_001341624.1:p.Ile332Met | |
| NM_002880.4:c.1338T>G MANE Select | NP_002871.1:p.Ile446Met | |
| NR_148940.3:n.1782T>G | ||
| NR_148941.3:n.1728T>G | ||
| NR_148942.3:n.1667T>G |