Linked Data
ClinVar Variation Id:
534542
ClinVar RCV Id:
RCV000642133
dbSNP Id:
rs751603831
gnomAD v2:
6-39876831-C-T
gnomAD v3:
6-39909055-C-T
gnomAD v4:
6-39909055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39909055C>T , CM000668.2:g.39909055C>T | GRCh38 |
| NC_000006.11:g.39876831C>T , CM000668.1:g.39876831C>T | GRCh37 |
| NC_000006.10:g.39984809C>T | NCBI36 |
| NG_009297.1:g.30424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.1150G>A MANE Select | ENSP00000344794.5:p.Glu384Lys | |
| ENST00000645522.1:n.1288G>A | ||
| ENST00000340692.9:c.1150G>A | ENSP00000344794.5:p.Glu384Lys | |
| ENST00000373181.8:c.841+780G>A | ENSP00000362277.4:n.841+780G>A | |
| ENST00000373186.8:c.1150G>A | ENSP00000362282.4:p.Gly384Ser | |
| ENST00000373188.6:c.1150G>A | ENSP00000362284.2:p.Gly384Ser | |
| ENST00000373195.7:c.841+780G>A | ENSP00000362291.3:n.841+780G>A | |
| ENST00000425303.6:c.1150G>A | ENSP00000416478.2:p.Glu384Lys | |
| ENST00000432280.2:c.1063G>A | ENSP00000410809.2:p.Gly355Ser | |
| NM_001075098.3:c.1150G>A | NP_001068566.1:p.Gly384Ser | |
| NM_005943.5:c.1150G>A | NP_005934.2:p.Gly384Ser | |
| NR_033233.1:n.1109+780G>A | ||
| XM_011514632.1:c.1150G>A | XP_011512934.1:p.Glu384Lys | |
| XM_011514633.1:c.1102+780G>A | XP_011512935.1:n.1102+780G>A | |
| XM_011514634.1:c.889G>A | XP_011512936.1:p.Glu297Lys | |
| XM_011514635.1:c.1150G>A | XP_011512937.1:p.Glu384Lys | |
| XR_926225.1:n.1195G>A | ||
| NM_001358529.1:c.1102+780G>A | NP_001345458.1:n.1102+780G>A | |
| NM_001358530.1:c.1150G>A | NP_001345459.1:p.Glu384Lys | |
| NM_001358531.1:c.889G>A | NP_001345460.1:p.Glu297Lys | |
| NM_001358533.1:c.889G>A | NP_001345462.1:p.Gly297Ser | |
| NM_001358534.1:c.889G>A | NP_001345463.1:p.Gly297Ser | |
| NM_001358530.2:c.1150G>A MANE Select | NP_001345459.1:p.Glu384Lys | |
| NM_001075098.4:c.1150G>A | NP_001068566.1:p.Gly384Ser | |
| NM_001358529.2:c.1102+780G>A | NP_001345458.1:n.1102+780G>A | |
| NM_001358531.2:c.889G>A | NP_001345460.1:p.Glu297Lys | |
| NM_001358533.2:c.889G>A | NP_001345462.1:p.Gly297Ser | |
| NR_033233.2:n.1020+780G>A | ||
| NM_001358534.2:c.889G>A | NP_001345463.1:p.Gly297Ser | |
| NM_005943.6:c.1150G>A | NP_005934.2:p.Gly384Ser |