Linked Data
ClinVar Variation Id:
314488
dbSNP Id:
rs370162922
ExAC:
14:76966328 C / T
gnomAD v2:
14-76966328-C-T
gnomAD v3:
14-76499985-C-T
gnomAD v4:
14-76499985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76499985C>T , CM000676.2:g.76499985C>T | GRCh38 |
| NC_000014.8:g.76966328C>T , CM000676.1:g.76966328C>T | GRCh37 |
| NC_000014.7:g.76036081C>T | NCBI36 |
| NG_012278.1:g.133639C>T | |
| NG_012278.2:g.133639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.1419C>T | ENSP00000370270.2:p.Pro473= | |
| ENST00000505752.6:c.*103C>T | ENSP00000423004.1:n.*103C>T | |
| ENST00000644823.1:c.*1527C>T MANE Select | ENSP00000493776.1:n.*1527C>T | |
| ENST00000380887.6:c.1419C>T | ENSP00000370270.2:p.Pro473= | |
| ENST00000505752.5:c.*103C>T | ENSP00000423004.1:n.*103C>T | |
| ENST00000509242.5:c.1419C>T | ENSP00000422488.1:p.Pro473= | |
| ENST00000512784.5:c.1434C>T | ENSP00000424992.1:p.Pro478= | |
| ENST00000611036.1:n.340C>T | ||
| NM_004452.3:c.1419C>T | NP_004443.3:p.Pro473= | |
| XM_011536547.1:c.1482C>T | XP_011534849.1:p.Pro494= | |
| XM_011536548.1:c.1419C>T | XP_011534850.1:p.Pro473= | |
| XM_011536549.1:c.1419C>T | XP_011534851.1:p.Pro473= | |
| XM_011536550.1:c.1419C>T | XP_011534852.1:p.Pro473= | |
| XM_011536551.1:c.1419C>T | XP_011534853.1:p.Pro473= | |
| XM_011536552.1:c.1419C>T | XP_011534854.1:p.Pro473= | |
| XM_011536553.1:c.*1023C>T | XP_011534855.1:n.*1023C>T | |
| XM_011536554.1:c.1482C>T | XP_011534856.1:p.Pro494= | |
| XM_011536555.1:c.741C>T | XP_011534857.1:p.Pro247= | |
| XR_943401.1:n.1916C>T | ||
| XR_944039.1:n.144+2172G>A | ||
| XM_011536547.2:c.1482C>T | XP_011534849.1:p.Pro494= | |
| XM_011536550.2:c.1419C>T | XP_011534852.1:p.Pro473= | |
| XM_011536553.2:c.*1023C>T | XP_011534855.1:n.*1023C>T | |
| XM_011536554.2:c.1482C>T | XP_011534856.1:p.Pro494= | |
| XM_017021085.1:c.1419C>T | XP_016876574.1:p.Pro473= | |
| XM_024449508.1:c.*103C>T | XP_024305276.1:n.*103C>T | |
| XM_024449509.1:c.1419C>T | XP_024305277.1:p.Pro473= | |
| XR_943401.2:n.2139C>T | ||
| NM_001379180.1:c.*1527C>T MANE Select | NP_001366109.1:n.*1527C>T | |
| NM_004452.4:c.1419C>T | NP_004443.3:p.Pro473= |