Linked Data
ClinVar Variation Id:
356641
ClinVar RCV Id:
RCV000304951
dbSNP Id:
rs200764011
ExAC:
6:39874256 A / C
gnomAD v2:
6-39874256-A-C
gnomAD v3:
6-39906480-A-C
gnomAD v4:
6-39906480-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39906480A>C , CM000668.2:g.39906480A>C | GRCh38 |
| NC_000006.11:g.39874256A>C , CM000668.1:g.39874256A>C | GRCh37 |
| NC_000006.10:g.39982234A>C | NCBI36 |
| NG_009297.1:g.32999T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.1788T>G MANE Select | ENSP00000344794.5:p.Ser596= | |
| ENST00000645522.1:n.1941T>G | ||
| ENST00000340692.9:c.1788T>G | ENSP00000344794.5:p.Ser596= | |
| ENST00000373181.8:c.842-2218T>G | ENSP00000362277.4:n.842-2218T>G | |
| ENST00000373186.8:c.*645T>G | ENSP00000362282.4:n.*645T>G | |
| ENST00000373188.6:c.*645T>G | ENSP00000362284.2:n.*645T>G | |
| ENST00000373195.7:c.1479T>G | ENSP00000362291.3:p.Ser493= | |
| ENST00000425303.6:c.1788T>G | ENSP00000416478.2:p.Ser596= | |
| NM_001075098.3:c.*645T>G | NP_001068566.1:n.*645T>G | |
| NM_005943.5:c.*645T>G | NP_005934.2:n.*645T>G | |
| NR_033233.1:n.1747T>G | ||
| XM_011514632.1:c.1788T>G | XP_011512934.1:p.Ser596= | |
| XM_011514633.1:c.1740T>G | XP_011512935.1:p.Ser580= | |
| XM_011514634.1:c.1527T>G | XP_011512936.1:p.Ser509= | |
| XM_011514635.1:c.1151-2218T>G | XP_011512937.1:n.1151-2218T>G | |
| XR_926225.1:n.1833T>G | ||
| NM_001358529.1:c.1740T>G | NP_001345458.1:p.Ser580= | |
| NM_001358530.1:c.1788T>G | NP_001345459.1:p.Ser596= | |
| NM_001358531.1:c.1527T>G | NP_001345460.1:p.Ser509= | |
| NM_001358533.1:c.*645T>G | NP_001345462.1:n.*645T>G | |
| NM_001358534.1:c.*645T>G | NP_001345463.1:n.*645T>G | |
| NM_001358530.2:c.1788T>G MANE Select | NP_001345459.1:p.Ser596= | |
| NM_001075098.4:c.*645T>G | NP_001068566.1:n.*645T>G | |
| NM_001358529.2:c.1740T>G | NP_001345458.1:p.Ser580= | |
| NM_001358531.2:c.1527T>G | NP_001345460.1:p.Ser509= | |
| NM_001358533.2:c.*645T>G | NP_001345462.1:n.*645T>G | |
| NR_033233.2:n.1658T>G | ||
| NM_001358534.2:c.*645T>G | NP_001345463.1:n.*645T>G | |
| NM_005943.6:c.*645T>G | NP_005934.2:n.*645T>G |