Linked Data
ClinVar Variation Id:
356646
dbSNP Id:
rs745789021
ExAC:
6:39874631 G / A
gnomAD v2:
6-39874631-G-A
gnomAD v3:
6-39906855-G-A
gnomAD v4:
6-39906855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39906855G>A , CM000668.2:g.39906855G>A | GRCh38 |
| NC_000006.11:g.39874631G>A , CM000668.1:g.39874631G>A | GRCh37 |
| NC_000006.10:g.39982609G>A | NCBI36 |
| NG_009297.1:g.32624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.1413C>T MANE Select | ENSP00000344794.5:p.Ala471= | |
| ENST00000645522.1:n.1566C>T | ||
| ENST00000340692.9:c.1413C>T | ENSP00000344794.5:p.Ala471= | |
| ENST00000373181.8:c.842-2593C>T | ENSP00000362277.4:n.842-2593C>T | |
| ENST00000373186.8:c.*270C>T | ENSP00000362282.4:n.*270C>T | |
| ENST00000373188.6:c.*270C>T | ENSP00000362284.2:n.*270C>T | |
| ENST00000373195.7:c.1104C>T | ENSP00000362291.3:p.Ala368= | |
| ENST00000425303.6:c.1413C>T | ENSP00000416478.2:p.Ala471= | |
| NM_001075098.3:c.*270C>T | NP_001068566.1:n.*270C>T | |
| NM_005943.5:c.*270C>T | NP_005934.2:n.*270C>T | |
| NR_033233.1:n.1372C>T | ||
| XM_011514632.1:c.1413C>T | XP_011512934.1:p.Ala471= | |
| XM_011514633.1:c.1365C>T | XP_011512935.1:p.Ala455= | |
| XM_011514634.1:c.1152C>T | XP_011512936.1:p.Ala384= | |
| XM_011514635.1:c.1150+2200C>T | XP_011512937.1:n.1150+2200C>T | |
| XR_926225.1:n.1458C>T | ||
| NM_001358529.1:c.1365C>T | NP_001345458.1:p.Ala455= | |
| NM_001358530.1:c.1413C>T | NP_001345459.1:p.Ala471= | |
| NM_001358531.1:c.1152C>T | NP_001345460.1:p.Ala384= | |
| NM_001358533.1:c.*270C>T | NP_001345462.1:n.*270C>T | |
| NM_001358534.1:c.*270C>T | NP_001345463.1:n.*270C>T | |
| NM_001358530.2:c.1413C>T MANE Select | NP_001345459.1:p.Ala471= | |
| NM_001075098.4:c.*270C>T | NP_001068566.1:n.*270C>T | |
| NM_001358529.2:c.1365C>T | NP_001345458.1:p.Ala455= | |
| NM_001358531.2:c.1152C>T | NP_001345460.1:p.Ala384= | |
| NM_001358533.2:c.*270C>T | NP_001345462.1:n.*270C>T | |
| NR_033233.2:n.1283C>T | ||
| NM_001358534.2:c.*270C>T | NP_001345463.1:n.*270C>T | |
| NM_005943.6:c.*270C>T | NP_005934.2:n.*270C>T |