Linked Data
ClinVar Variation Id:
492690
ClinVar RCV Id:
RCV000583210
dbSNP Id:
rs200169541
ExAC:
14:75497420 T / G
gnomAD v2:
14-75497420-T-G
gnomAD v3:
14-75030717-T-G
gnomAD v4:
14-75030717-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75030717T>G , CM000676.2:g.75030717T>G | GRCh38 |
| NC_000014.8:g.75497420T>G , CM000676.1:g.75497420T>G | GRCh37 |
| NC_000014.7:g.74567173T>G | NCBI36 |
| NG_008649.1:g.25816A>C , LRG_217:g.25816A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.3828-15A>C MANE Select | ENSP00000348020.2:n.3828-15A>C | |
| ENST00000355774.6:c.3828-15A>C | ENSP00000348020.2:n.3828-15A>C | |
| ENST00000380968.6:c.3756-15A>C | ENSP00000370355.3:n.3756-15A>C | |
| ENST00000553713.5:c.899-15A>C | ||
| ENST00000555144.5:c.859-15A>C | ||
| ENST00000555499.1:n.383-15A>C | ||
| ENST00000556257.5:c.3281-2A>C | ENSP00000451540.1:n.3281-2A>C | |
| ENST00000556453.5:c.373-15A>C | ||
| ENST00000556740.5:c.3828-15A>C | ENSP00000452316.1:n.3828-15A>C | |
| NM_001040108.1:c.3828-15A>C , LRG_217t1:c.3828-15A>C | NP_001035197.1:n.3828-15A>C | |
| NM_014381.2:c.3756-15A>C | NP_055196.2:n.3756-15A>C | |
| XM_005267531.3:c.3828-15A>C | XP_005267588.1:n.3828-15A>C | |
| XM_005267532.3:c.3723-15A>C | XP_005267589.1:n.3723-15A>C | |
| XM_005267533.3:c.3651-15A>C | XP_005267590.1:n.3651-15A>C | |
| XM_005267534.2:c.3828-65A>C | XP_005267591.1:n.3828-65A>C | |
| XM_006720116.2:c.3828-15A>C | XP_006720179.1:n.3828-15A>C | |
| XM_011536646.1:c.3644-2A>C | XP_011534948.1:n.3644-2A>C | |
| XM_011536647.1:c.3828-2A>C | XP_011534949.1:n.3828-2A>C | |
| XR_245681.2:n.4044-15A>C | ||
| XM_005267532.5:c.3723-15A>C | XP_005267589.1:n.3723-15A>C | |
| XM_005267533.5:c.3651-15A>C | XP_005267590.1:n.3651-15A>C | |
| XM_005267534.3:c.3828-65A>C | XP_005267591.1:n.3828-65A>C | |
| XM_006720116.4:c.3828-15A>C | XP_006720179.1:n.3828-15A>C | |
| XM_011536646.3:c.3644-2A>C | XP_011534948.1:n.3644-2A>C | |
| XM_017021219.2:c.3756-15A>C | XP_016876708.1:n.3756-15A>C | |
| XM_024449538.1:c.3723-15A>C | XP_024305306.1:n.3723-15A>C | |
| XM_024449539.1:c.276-15A>C | XP_024305307.1:n.276-15A>C | |
| XR_001750225.2:n.3919-15A>C | ||
| XR_001750227.2:n.3990+1351A>C | ||
| XR_001750228.2:n.3991-2A>C | ||
| XR_001750229.2:n.3886-2A>C | ||
| XR_001750230.2:n.3886-65A>C | ||
| XR_002957544.1:n.4000-15A>C | ||
| XR_245681.4:n.3991-15A>C | ||
| NM_001040108.2:c.3828-15A>C MANE Select | NP_001035197.1:n.3828-15A>C | |
| NM_014381.3:c.3756-15A>C | NP_055196.2:n.3756-15A>C |