Linked Data
ClinVar Variation Id:
260292
dbSNP Id:
rs142916824
ExAC:
14:77753074 G / A
gnomAD v2:
14-77753074-G-A
gnomAD v3:
14-77286731-G-A
gnomAD v4:
14-77286731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286731G>A , CM000676.2:g.77286731G>A | GRCh38 |
| NC_000014.8:g.77753074G>A , CM000676.1:g.77753074G>A | GRCh37 |
| NC_000014.7:g.76822827G>A | NCBI36 |
| NG_008897.1:g.39152C>T , LRG_844:g.39152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.873+13C>T | ENSP00000451967.2:n.873+13C>T | |
| ENST00000682247.1:c.1332+13C>T | ENSP00000507213.1:n.1332+13C>T | |
| ENST00000682382.1:c.904+13C>T | ||
| ENST00000682395.1:n.1510+13C>T | ||
| ENST00000682459.1:n.1035+13C>T | ||
| ENST00000682467.1:c.1332+13C>T | ENSP00000508062.1:n.1332+13C>T | |
| ENST00000682795.1:c.1332+13C>T | ENSP00000507574.1:n.1332+13C>T | |
| ENST00000682895.1:n.1048+13C>T | ||
| ENST00000682955.1:n.620+13C>T | ||
| ENST00000683188.1:c.1307+13C>T | ||
| ENST00000683380.1:n.996+13C>T | ||
| ENST00000683828.1:c.1041+13C>T | ||
| ENST00000684259.1:n.1183+13C>T | ||
| ENST00000684444.1:c.83+9C>T | ||
| ENST00000684549.1:n.883+13C>T | ||
| ENST00000261534.9:c.1332+13C>T MANE Select | ENSP00000261534.4:n.1332+13C>T | |
| ENST00000261534.8:c.1332+13C>T | ENSP00000261534.4:n.1332+13C>T | |
| ENST00000452340.7:n.1355+13C>T | ||
| ENST00000553880.5:n.203+13C>T | ||
| ENST00000554767.5:n.2118+13C>T | ||
| ENST00000554884.5:n.324+13C>T | ||
| ENST00000556404.1:n.466+13C>T | ||
| ENST00000557675.5:n.422+13C>T | ||
| NM_013382.5:c.1332+13C>T , LRG_844t1:c.1332+13C>T | NP_037514.2:n.1332+13C>T | |
| XM_011536675.1:c.1332+13C>T | XP_011534977.1:n.1332+13C>T | |
| XM_011536676.1:c.999+13C>T | XP_011534978.1:n.999+13C>T | |
| XM_011536677.1:c.873+13C>T | XP_011534979.1:n.873+13C>T | |
| XM_011536678.1:c.1332+13C>T | XP_011534980.1:n.1332+13C>T | |
| XM_011536679.1:c.426+13C>T | XP_011534981.1:n.426+13C>T | |
| XR_943416.1:n.1535+13C>T | ||
| XM_011536675.2:c.1332+13C>T | XP_011534977.1:n.1332+13C>T | |
| XM_011536676.2:c.999+13C>T | XP_011534978.1:n.999+13C>T | |
| XM_011536677.3:c.873+13C>T | XP_011534979.1:n.873+13C>T | |
| XR_001750279.1:n.1532+13C>T | ||
| XR_001750282.1:n.1985+13C>T | ||
| XR_943416.3:n.1533+13C>T | ||
| NM_013382.6:c.1332+13C>T | NP_037514.2:n.1332+13C>T | |
| NM_013382.7:c.1332+13C>T MANE Select | NP_037514.2:n.1332+13C>T |