Linked Data
ClinVar Variation Id:
314495
ClinVar RCV Id:
RCV000389347
dbSNP Id:
rs554904120
gnomAD v3:
14-76501325-C-T
gnomAD v4:
14-76501325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76501325C>T , CM000676.2:g.76501325C>T | GRCh38 |
| NC_000014.8:g.76967668C>T , CM000676.1:g.76967668C>T | GRCh37 |
| NC_000014.7:g.76037421C>T | NCBI36 |
| NG_012278.1:g.134979C>T | |
| NG_012278.2:g.134979C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380887.7:c.*604C>T | ENSP00000370270.2:n.*604C>T | |
| ENST00000644823.1:c.*2867C>T MANE Select | ENSP00000493776.1:n.*2867C>T | |
| ENST00000380887.6:c.*604C>T | ENSP00000370270.2:n.*604C>T | |
| ENST00000509242.5:c.*604C>T | ENSP00000422488.1:n.*604C>T | |
| ENST00000611036.1:n.1680C>T | ||
| NM_004452.3:c.*604C>T | NP_004443.3:n.*604C>T | |
| XM_011536547.1:c.*1100C>T | XP_011534849.1:n.*1100C>T | |
| XM_011536548.1:c.*1100C>T | XP_011534850.1:n.*1100C>T | |
| XM_011536549.1:c.*1100C>T | XP_011534851.1:n.*1100C>T | |
| XM_011536550.1:c.*1100C>T | XP_011534852.1:n.*1100C>T | |
| XM_011536551.1:c.*1100C>T | XP_011534853.1:n.*1100C>T | |
| XM_011536552.1:c.*1100C>T | XP_011534854.1:n.*1100C>T | |
| XM_011536553.1:c.*2363C>T | XP_011534855.1:n.*2363C>T | |
| XM_011536554.1:c.*604C>T | XP_011534856.1:n.*604C>T | |
| XM_011536555.1:c.*1100C>T | XP_011534857.1:n.*1100C>T | |
| XR_943401.1:n.2628C>T | ||
| XR_944039.1:n.144+832G>A | ||
| XM_011536547.2:c.*1100C>T | XP_011534849.1:n.*1100C>T | |
| XM_011536550.2:c.*1100C>T | XP_011534852.1:n.*1100C>T | |
| XM_011536553.2:c.*2363C>T | XP_011534855.1:n.*2363C>T | |
| XM_011536554.2:c.*604C>T | XP_011534856.1:n.*604C>T | |
| XM_017021085.1:c.*1100C>T | XP_016876574.1:n.*1100C>T | |
| XM_024449508.1:c.*1443C>T | XP_024305276.1:n.*1443C>T | |
| XM_024449509.1:c.*604C>T | XP_024305277.1:n.*604C>T | |
| XR_943401.2:n.2851C>T | ||
| NM_001379180.1:c.*2867C>T MANE Select | NP_001366109.1:n.*2867C>T | |
| NM_004452.4:c.*604C>T | NP_004443.3:n.*604C>T |