Linked Data
ClinVar Variation Id:
2531
dbSNP Id:
rs587777808
ExAC:
14:89310195 G / A
gnomAD v2:
14-89310195-G-A
gnomAD v3:
14-88843851-G-A
gnomAD v4:
14-88843851-G-A
PubMed:
PMID:16308660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88843851G>A , CM000676.2:g.88843851G>A | GRCh38 |
| NC_000014.8:g.89310195G>A , CM000676.1:g.89310195G>A | GRCh37 |
| NC_000014.7:g.88379948G>A | NCBI36 |
| NG_008126.1:g.24218G>A | |
| NG_008126.2:g.24699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.624+1G>A MANE Select | ENSP00000370031.2:n.624+1G>A | |
| ENST00000557580.3:c.75+1G>A | ENSP00000451955.2:n.75+1G>A | |
| ENST00000338104.10:c.594+1G>A | ENSP00000337653.6:n.594+1G>A | |
| ENST00000345383.9:c.624+1G>A | ENSP00000339486.6:n.624+1G>A | |
| ENST00000346301.8:c.504+1G>A | ENSP00000298324.6:n.504+1G>A | |
| ENST00000354441.10:c.114+19030G>A | ENSP00000346427.6:n.114+19030G>A | |
| ENST00000358622.9:c.30+2294G>A | ENSP00000351439.5:n.30+2294G>A | |
| ENST00000380656.6:c.624+1G>A | ENSP00000370031.2:n.624+1G>A | |
| ENST00000536576.5:c.504+1G>A | ENSP00000445067.2:n.504+1G>A | |
| ENST00000554686.5:c.473+1G>A | ||
| ENST00000555057.5:c.*31+2294G>A | ENSP00000450951.1:n.*31+2294G>A | |
| ENST00000556077.5:c.*112+1G>A | ENSP00000451034.1:n.*112+1G>A | |
| ENST00000556133.1:n.385+1G>A | ||
| ENST00000556567.5:n.879+1G>A | ||
| ENST00000556651.5:c.549+2337G>A | ENSP00000450993.1:n.549+2337G>A | |
| ENST00000557580.2:c.75+1G>A | ||
| ENST00000614125.4:c.594+1G>A | ENSP00000482306.1:n.594+1G>A | |
| ENST00000622513.4:c.594+1G>A | ENSP00000482721.1:n.594+1G>A | |
| NM_001288781.1:c.594+1G>A | NP_001275710.1:n.594+1G>A | |
| NM_001288782.1:c.30+2294G>A | NP_001275711.1:n.30+2294G>A | |
| NM_001288783.1:c.-154+1G>A | NP_001275712.1:n.-154+1G>A | |
| NM_144596.3:c.624+1G>A | NP_653197.2:n.624+1G>A | |
| NM_198309.3:c.594+1G>A | NP_938051.1:n.594+1G>A | |
| NM_198310.3:c.504+1G>A | NP_938052.1:n.504+1G>A | |
| XM_006720035.1:c.594+1G>A | XP_006720098.1:n.594+1G>A | |
| XM_006720037.2:c.504+1G>A | XP_006720100.1:n.504+1G>A | |
| XM_011536432.1:c.594+1G>A | XP_011534734.1:n.594+1G>A | |
| XM_011536433.1:c.594+1G>A | XP_011534735.1:n.594+1G>A | |
| XM_011536434.1:c.504+1G>A | XP_011534736.1:n.504+1G>A | |
| XM_011536435.1:c.-154+1G>A | XP_011534737.1:n.-154+1G>A | |
| NM_001366535.1:c.594+1G>A | NP_001353464.1:n.594+1G>A | |
| NM_001366536.1:c.504+1G>A | NP_001353465.1:n.504+1G>A | |
| NR_159362.1:n.651+1G>A | ||
| XM_011536433.2:c.594+1G>A | XP_011534735.1:n.594+1G>A | |
| XM_011536434.2:c.504+1G>A | XP_011534736.1:n.504+1G>A | |
| XM_024449477.1:c.-154+1G>A | XP_024305245.1:n.-154+1G>A | |
| NM_001366535.2:c.594+1G>A | NP_001353464.1:n.594+1G>A | |
| NM_001366536.2:c.504+1G>A | NP_001353465.1:n.504+1G>A | |
| NR_159362.2:n.651+1G>A | ||
| NM_144596.4:c.624+1G>A MANE Select | NP_653197.2:n.624+1G>A |