Linked Data
ClinVar Variation Id:
100608
dbSNP Id:
rs137853922
ExAC:
14:89319310 C / T
gnomAD v2:
14-89319310-C-T
gnomAD v3:
14-88852966-C-T
gnomAD v4:
14-88852966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88852966C>T , CM000676.2:g.88852966C>T | GRCh38 |
| NC_000014.8:g.89319310C>T , CM000676.1:g.89319310C>T | GRCh37 |
| NC_000014.7:g.88389063C>T | NCBI36 |
| NG_008126.1:g.33333C>T | |
| NG_008126.2:g.33814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.625-5C>T MANE Select | ENSP00000370031.2:n.625-5C>T | |
| ENST00000557580.3:c.76-4224C>T | ENSP00000451955.2:n.76-4224C>T | |
| ENST00000338104.10:c.673-5C>T | ENSP00000337653.6:n.673-5C>T | |
| ENST00000345383.9:c.625-5C>T | ENSP00000339486.6:n.625-5C>T | |
| ENST00000346301.8:c.505-5C>T | ENSP00000298324.6:n.505-5C>T | |
| ENST00000354441.10:c.115-17093C>T | ENSP00000346427.6:n.115-17093C>T | |
| ENST00000358622.9:c.31-5C>T | ENSP00000351439.5:n.31-5C>T | |
| ENST00000380656.6:c.625-5C>T | ENSP00000370031.2:n.625-5C>T | |
| ENST00000536576.5:c.505-5C>T | ENSP00000445067.2:n.505-5C>T | |
| ENST00000554686.5:c.474-5C>T | ||
| ENST00000555057.5:c.*32-5C>T | ENSP00000450951.1:n.*32-5C>T | |
| ENST00000556077.5:c.*113-5C>T | ENSP00000451034.1:n.*113-5C>T | |
| ENST00000556133.1:n.446-5C>T | ||
| ENST00000556567.5:n.880-5C>T | ||
| ENST00000556651.5:c.550-5C>T | ENSP00000450993.1:n.550-5C>T | |
| ENST00000557580.2:c.76-4224C>T | ||
| ENST00000614125.4:c.673-5C>T | ENSP00000482306.1:n.673-5C>T | |
| ENST00000622513.4:c.595-5C>T | ENSP00000482721.1:n.595-5C>T | |
| NM_001288781.1:c.673-5C>T | NP_001275710.1:n.673-5C>T | |
| NM_001288782.1:c.31-5C>T | NP_001275711.1:n.31-5C>T | |
| NM_001288783.1:c.-93-5C>T | NP_001275712.1:n.-93-5C>T | |
| NM_144596.3:c.625-5C>T | NP_653197.2:n.625-5C>T | |
| NM_198309.3:c.595-5C>T | NP_938051.1:n.595-5C>T | |
| NM_198310.3:c.505-5C>T | NP_938052.1:n.505-5C>T | |
| XM_006720035.1:c.595-5C>T | XP_006720098.1:n.595-5C>T | |
| XM_006720037.2:c.505-5C>T | XP_006720100.1:n.505-5C>T | |
| XM_011536432.1:c.673-5C>T | XP_011534734.1:n.673-5C>T | |
| XM_011536433.1:c.673-5C>T | XP_011534735.1:n.673-5C>T | |
| XM_011536434.1:c.583-5C>T | XP_011534736.1:n.583-5C>T | |
| XM_011536435.1:c.-93-5C>T | XP_011534737.1:n.-93-5C>T | |
| NM_001366535.1:c.595-5C>T | NP_001353464.1:n.595-5C>T | |
| NM_001366536.1:c.505-5C>T | NP_001353465.1:n.505-5C>T | |
| NR_159362.1:n.712-5C>T | ||
| XM_011536433.2:c.673-5C>T | XP_011534735.1:n.673-5C>T | |
| XM_011536434.2:c.583-5C>T | XP_011534736.1:n.583-5C>T | |
| XM_024449477.1:c.-93-5C>T | XP_024305245.1:n.-93-5C>T | |
| NM_001366535.2:c.595-5C>T | NP_001353464.1:n.595-5C>T | |
| NM_001366536.2:c.505-5C>T | NP_001353465.1:n.505-5C>T | |
| NR_159362.2:n.712-5C>T | ||
| NM_144596.4:c.625-5C>T MANE Select | NP_653197.2:n.625-5C>T |