Linked Data
ClinVar Variation Id:
320156
ClinVar RCV Id:
RCV000276490
dbSNP Id:
rs544189950
gnomAD v2:
16-66545529-G-T
gnomAD v3:
16-66511626-G-T
gnomAD v4:
16-66511626-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66511626G>T , CM000678.2:g.66511626G>T | GRCh38 |
| NC_000016.9:g.66545529G>T , CM000678.1:g.66545529G>T | GRCh37 |
| NC_000016.8:g.65103030G>T | NCBI36 |
| NG_016862.1:g.43787C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.*342C>A | ENSP00000299697.9:n.*342C>A | |
| ENST00000451102.7:c.*342C>A | ENSP00000414334.4:n.*342C>A | |
| ENST00000527284.6:c.1003C>A | ||
| ENST00000527800.6:c.*342C>A | ENSP00000433770.1:n.*342C>A | |
| ENST00000544898.6:c.*342C>A MANE Select | ENSP00000440898.2:n.*342C>A | |
| ENST00000567357.6:c.*998C>A | ENSP00000457959.2:n.*998C>A | |
| ENST00000620035.5:c.*437C>A | ENSP00000483833.2:n.*437C>A | |
| ENST00000677166.1:n.109+332C>A | ||
| ENST00000677319.1:c.109+332C>A | ENSP00000503900.1:n.109+332C>A | |
| ENST00000677420.1:c.*342C>A | ENSP00000504648.1:n.*342C>A | |
| ENST00000677535.1:c.441C>A | ENSP00000502856.1:n.441C>A | |
| ENST00000677555.1:c.*342C>A | ENSP00000503331.1:n.*342C>A | |
| ENST00000677753.1:n.81+2105C>A | ||
| ENST00000678015.1:c.*342C>A | ENSP00000502959.1:n.*342C>A | |
| ENST00000678099.1:c.441C>A | ENSP00000504701.1:n.441C>A | |
| ENST00000678219.1:c.441C>A | ENSP00000504142.1:n.441C>A | |
| ENST00000678282.1:n.81+2105C>A | ||
| ENST00000678297.1:c.*342C>A | ENSP00000503472.1:n.*342C>A | |
| ENST00000678861.1:c.441C>A | ENSP00000502932.1:n.441C>A | |
| ENST00000299697.11:c.*342C>A | ENSP00000299697.8:n.*342C>A | |
| ENST00000451102.6:c.*342C>A | ENSP00000414334.3:n.*342C>A | |
| ENST00000527284.5:c.*342C>A | ENSP00000435312.1:n.*342C>A | |
| ENST00000527800.5:c.*342C>A | ENSP00000433770.1:n.*342C>A | |
| ENST00000544898.5:c.*342C>A | ENSP00000440898.2:n.*342C>A | |
| ENST00000561527.5:n.258+2105C>A | ||
| ENST00000561728.1:c.148+2105C>A | ||
| ENST00000561905.2:c.53+2105C>A | ||
| ENST00000567357.5:c.*998C>A | ENSP00000457959.1:n.*998C>A | |
| ENST00000620035.4:c.*342C>A | ENSP00000483833.1:n.*342C>A | |
| NM_001172643.1:c.*342C>A | NP_001166114.1:n.*342C>A | |
| NM_001172644.1:c.*342C>A | NP_001166115.1:n.*342C>A | |
| NM_001172645.1:c.*342C>A | NP_001166116.1:n.*342C>A | |
| NM_001271934.1:c.*342C>A | NP_001258863.1:n.*342C>A | |
| NM_001271935.1:c.*437C>A | NP_001258864.1:n.*437C>A | |
| NM_001272050.1:c.*342C>A | NP_001258979.1:n.*342C>A | |
| NM_004614.4:c.*342C>A | NP_004605.4:n.*342C>A | |
| NR_073520.1:n.2419C>A | ||
| NM_001172644.2:c.*342C>A | NP_001166115.1:n.*342C>A | |
| NM_001271934.2:c.*342C>A | NP_001258863.1:n.*342C>A | |
| NM_001272050.2:c.*342C>A | NP_001258979.1:n.*342C>A | |
| NM_004614.5:c.*342C>A MANE Select | NP_004605.4:n.*342C>A | |
| NR_073520.2:n.2129C>A | ||
| NM_001172645.2:c.*342C>A | NP_001166116.1:n.*342C>A |