Linked Data
ClinVar Variation Id:
492693
ClinVar RCV Id:
RCV000583304
dbSNP Id:
rs369710216
ExAC:
14:75505141 C / A
gnomAD v2:
14-75505141-C-A
gnomAD v3:
14-75038438-C-A
gnomAD v4:
14-75038438-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75038438C>A , CM000676.2:g.75038438C>A | GRCh38 |
| NC_000014.8:g.75505141C>A , CM000676.1:g.75505141C>A | GRCh37 |
| NC_000014.7:g.74574894C>A | NCBI36 |
| NG_008649.1:g.18095G>T , LRG_217:g.18095G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.3571-26G>T MANE Select | ENSP00000348020.2:n.3571-26G>T | |
| ENST00000355774.6:c.3571-26G>T | ENSP00000348020.2:n.3571-26G>T | |
| ENST00000380968.6:c.3571-26G>T | ENSP00000370355.3:n.3571-26G>T | |
| ENST00000553713.5:c.642-26G>T | ||
| ENST00000555144.5:c.452-26G>T | ||
| ENST00000555499.1:n.198+3177G>T | ||
| ENST00000556257.5:c.3281-7723G>T | ENSP00000451540.1:n.3281-7723G>T | |
| ENST00000556453.5:c.260+1473G>T | ||
| ENST00000556740.5:c.3571-26G>T | ENSP00000452316.1:n.3571-26G>T | |
| NM_001040108.1:c.3571-26G>T , LRG_217t1:c.3571-26G>T | NP_001035197.1:n.3571-26G>T | |
| NM_014381.2:c.3571-26G>T | NP_055196.2:n.3571-26G>T | |
| XM_005267531.3:c.3571-26G>T | XP_005267588.1:n.3571-26G>T | |
| XM_005267532.3:c.3466-26G>T | XP_005267589.1:n.3466-26G>T | |
| XM_005267533.3:c.3466-26G>T | XP_005267590.1:n.3466-26G>T | |
| XM_005267534.2:c.3571-26G>T | XP_005267591.1:n.3571-26G>T | |
| XM_006720116.2:c.3571-26G>T | XP_006720179.1:n.3571-26G>T | |
| XM_011536646.1:c.3571-26G>T | XP_011534948.1:n.3571-26G>T | |
| XM_011536647.1:c.3571-26G>T | XP_011534949.1:n.3571-26G>T | |
| XR_245681.2:n.3787-26G>T | ||
| XM_005267532.5:c.3466-26G>T | XP_005267589.1:n.3466-26G>T | |
| XM_005267533.5:c.3466-26G>T | XP_005267590.1:n.3466-26G>T | |
| XM_005267534.3:c.3571-26G>T | XP_005267591.1:n.3571-26G>T | |
| XM_006720116.4:c.3571-26G>T | XP_006720179.1:n.3571-26G>T | |
| XM_011536646.3:c.3571-26G>T | XP_011534948.1:n.3571-26G>T | |
| XM_017021219.2:c.3571-26G>T | XP_016876708.1:n.3571-26G>T | |
| XM_024449538.1:c.3466-26G>T | XP_024305306.1:n.3466-26G>T | |
| XM_024449539.1:c.19-26G>T | XP_024305307.1:n.19-26G>T | |
| XR_001750225.2:n.3734-26G>T | ||
| XR_001750227.2:n.3734-26G>T | ||
| XR_001750228.2:n.3734-26G>T | ||
| XR_001750229.2:n.3629-26G>T | ||
| XR_001750230.2:n.3629-26G>T | ||
| XR_002957544.1:n.3743-26G>T | ||
| XR_245681.4:n.3734-26G>T | ||
| NM_001040108.2:c.3571-26G>T MANE Select | NP_001035197.1:n.3571-26G>T | |
| NM_014381.3:c.3571-26G>T | NP_055196.2:n.3571-26G>T |