Linked Data
ClinVar Variation Id:
314800
dbSNP Id:
rs768485587
ExAC:
14:89327555 C / T
gnomAD v2:
14-89327555-C-T
gnomAD v3:
14-88861211-C-T
gnomAD v4:
14-88861211-C-T
MyVariant Identifiers:
chr14:g.89327555C>T (hg19)
chr14:g.89327555_89327556delinsTT (hg19)
chr14:g.88861211C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88861211C>T , CM000676.2:g.88861211C>T | GRCh38 |
| NC_000014.8:g.89327555C>T , CM000676.1:g.89327555C>T | GRCh37 |
| NC_000014.7:g.88397308C>T | NCBI36 |
| NG_008126.1:g.41578C>T | |
| NG_008126.2:g.42059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.799-11C>T MANE Select | ENSP00000370031.2:n.799-11C>T | |
| ENST00000557580.3:c.164-11C>T | ENSP00000451955.2:n.164-11C>T | |
| ENST00000338104.10:c.847-11C>T | ENSP00000337653.6:n.847-11C>T | |
| ENST00000345383.9:c.799-11C>T | ENSP00000339486.6:n.799-11C>T | |
| ENST00000346301.8:c.679-11C>T | ENSP00000298324.6:n.679-11C>T | |
| ENST00000354441.10:c.115-8848C>T | ENSP00000346427.6:n.115-8848C>T | |
| ENST00000358622.9:c.205-11C>T | ENSP00000351439.5:n.205-11C>T | |
| ENST00000380656.6:c.799-11C>T | ENSP00000370031.2:n.799-11C>T | |
| ENST00000536576.5:c.679-11C>T | ENSP00000445067.2:n.679-11C>T | |
| ENST00000554686.5:c.648-11C>T | ||
| ENST00000555057.5:c.*206-11C>T | ENSP00000450951.1:n.*206-11C>T | |
| ENST00000557580.2:c.164-11C>T | ||
| ENST00000614125.4:c.847-11C>T | ENSP00000482306.1:n.847-11C>T | |
| ENST00000622513.4:c.769-11C>T | ENSP00000482721.1:n.769-11C>T | |
| NM_001288781.1:c.847-11C>T | NP_001275710.1:n.847-11C>T | |
| NM_001288782.1:c.205-11C>T | NP_001275711.1:n.205-11C>T | |
| NM_001288783.1:c.82-11C>T | NP_001275712.1:n.82-11C>T | |
| NM_144596.3:c.799-11C>T | NP_653197.2:n.799-11C>T | |
| NM_198309.3:c.769-11C>T | NP_938051.1:n.769-11C>T | |
| NM_198310.3:c.679-11C>T | NP_938052.1:n.679-11C>T | |
| XM_006720035.1:c.769-11C>T | XP_006720098.1:n.769-11C>T | |
| XM_006720037.2:c.679-11C>T | XP_006720100.1:n.679-11C>T | |
| XM_011536432.1:c.847-11C>T | XP_011534734.1:n.847-11C>T | |
| XM_011536433.1:c.847-11C>T | XP_011534735.1:n.847-11C>T | |
| XM_011536434.1:c.757-11C>T | XP_011534736.1:n.757-11C>T | |
| XM_011536435.1:c.82-11C>T | XP_011534737.1:n.82-11C>T | |
| NM_001366535.1:c.769-11C>T | NP_001353464.1:n.769-11C>T | |
| NM_001366536.1:c.679-11C>T | NP_001353465.1:n.679-11C>T | |
| NR_159362.1:n.886-11C>T | ||
| XM_011536433.2:c.847-11C>T | XP_011534735.1:n.847-11C>T | |
| XM_011536434.2:c.757-11C>T | XP_011534736.1:n.757-11C>T | |
| XM_024449477.1:c.82-11C>T | XP_024305245.1:n.82-11C>T | |
| NM_001366535.2:c.769-11C>T | NP_001353464.1:n.769-11C>T | |
| NM_001366536.2:c.679-11C>T | NP_001353465.1:n.679-11C>T | |
| NR_159362.2:n.886-11C>T | ||
| NM_144596.4:c.799-11C>T MANE Select | NP_653197.2:n.799-11C>T |