Linked Data
ClinVar Variation Id:
320155
ClinVar RCV Id:
RCV000370832
dbSNP Id:
rs775590447
gnomAD v2:
16-66545427-C-A
gnomAD v3:
16-66511524-C-A
gnomAD v4:
16-66511524-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66511524C>A , CM000678.2:g.66511524C>A | GRCh38 |
| NC_000016.9:g.66545427C>A , CM000678.1:g.66545427C>A | GRCh37 |
| NC_000016.8:g.65102928C>A | NCBI36 |
| NG_016862.1:g.43889G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.*444G>T | ENSP00000299697.9:n.*444G>T | |
| ENST00000451102.7:c.*444G>T | ENSP00000414334.4:n.*444G>T | |
| ENST00000527284.6:c.1105G>T | ||
| ENST00000527800.6:c.*444G>T | ENSP00000433770.1:n.*444G>T | |
| ENST00000544898.6:c.*444G>T MANE Select | ENSP00000440898.2:n.*444G>T | |
| ENST00000567357.6:c.*1100G>T | ENSP00000457959.2:n.*1100G>T | |
| ENST00000620035.5:c.*539G>T | ENSP00000483833.2:n.*539G>T | |
| ENST00000677166.1:n.109+434G>T | ||
| ENST00000677319.1:c.109+434G>T | ENSP00000503900.1:n.109+434G>T | |
| ENST00000677420.1:c.*444G>T | ENSP00000504648.1:n.*444G>T | |
| ENST00000677535.1:c.543G>T | ENSP00000502856.1:n.543G>T | |
| ENST00000677555.1:c.*444G>T | ENSP00000503331.1:n.*444G>T | |
| ENST00000677753.1:n.81+2207G>T | ||
| ENST00000678015.1:c.*444G>T | ENSP00000502959.1:n.*444G>T | |
| ENST00000678099.1:c.467+76G>T | ENSP00000504701.1:n.467+76G>T | |
| ENST00000678219.1:c.543G>T | ENSP00000504142.1:n.543G>T | |
| ENST00000678282.1:n.81+2207G>T | ||
| ENST00000678297.1:c.*444G>T | ENSP00000503472.1:n.*444G>T | |
| ENST00000678861.1:c.467+76G>T | ENSP00000502932.1:n.467+76G>T | |
| ENST00000299697.11:c.*444G>T | ENSP00000299697.8:n.*444G>T | |
| ENST00000451102.6:c.*444G>T | ENSP00000414334.3:n.*444G>T | |
| ENST00000527284.5:c.*444G>T | ENSP00000435312.1:n.*444G>T | |
| ENST00000527800.5:c.*444G>T | ENSP00000433770.1:n.*444G>T | |
| ENST00000544898.5:c.*444G>T | ENSP00000440898.2:n.*444G>T | |
| ENST00000561527.5:n.258+2207G>T | ||
| ENST00000561728.1:c.148+2207G>T | ||
| ENST00000561905.2:c.53+2207G>T | ||
| ENST00000567357.5:c.*1100G>T | ENSP00000457959.1:n.*1100G>T | |
| ENST00000620035.4:c.*444G>T | ENSP00000483833.1:n.*444G>T | |
| NM_001172643.1:c.*444G>T | NP_001166114.1:n.*444G>T | |
| NM_001172644.1:c.*444G>T | NP_001166115.1:n.*444G>T | |
| NM_001172645.1:c.*444G>T | NP_001166116.1:n.*444G>T | |
| NM_001271934.1:c.*444G>T | NP_001258863.1:n.*444G>T | |
| NM_001271935.1:c.*539G>T | NP_001258864.1:n.*539G>T | |
| NM_001272050.1:c.*444G>T | NP_001258979.1:n.*444G>T | |
| NM_004614.4:c.*444G>T | NP_004605.4:n.*444G>T | |
| NR_073520.1:n.2521G>T | ||
| NM_001172644.2:c.*444G>T | NP_001166115.1:n.*444G>T | |
| NM_001271934.2:c.*444G>T | NP_001258863.1:n.*444G>T | |
| NM_001272050.2:c.*444G>T | NP_001258979.1:n.*444G>T | |
| NM_004614.5:c.*444G>T MANE Select | NP_004605.4:n.*444G>T | |
| NR_073520.2:n.2231G>T | ||
| NM_001172645.2:c.*444G>T | NP_001166116.1:n.*444G>T |