Linked Data
ClinVar Variation Id:
262516
dbSNP Id:
rs17700296
ExAC:
14:89307320 T / C
gnomAD v2:
14-89307320-T-C
gnomAD v3:
14-88840976-T-C
gnomAD v4:
14-88840976-T-C
MyVariant Identifiers:
chr14:g.89307320T>C (hg19)
chr14:g.89307320_89307328delinsCGTATGAGA (hg19)
chr14:g.88840976T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88840976T>C , CM000676.2:g.88840976T>C | GRCh38 |
| NC_000014.8:g.89307320T>C , CM000676.1:g.89307320T>C | GRCh37 |
| NC_000014.7:g.88377073T>C | NCBI36 |
| NG_008126.1:g.21343T>C | |
| NG_008126.2:g.21824T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.329+48T>C MANE Select | ENSP00000370031.2:n.329+48T>C | |
| ENST00000338104.10:c.299+48T>C | ENSP00000337653.6:n.299+48T>C | |
| ENST00000345383.9:c.329+48T>C | ENSP00000339486.6:n.329+48T>C | |
| ENST00000346301.8:c.299+48T>C | ENSP00000298324.6:n.299+48T>C | |
| ENST00000354441.10:c.114+16155T>C | ENSP00000346427.6:n.114+16155T>C | |
| ENST00000358622.9:c.-264+48T>C | ENSP00000351439.5:n.-264+48T>C | |
| ENST00000380656.6:c.329+48T>C | ENSP00000370031.2:n.329+48T>C | |
| ENST00000536576.5:c.299+48T>C | ENSP00000445067.2:n.299+48T>C | |
| ENST00000554686.5:c.268+48T>C | ||
| ENST00000555057.5:c.299+48T>C | ENSP00000450951.1:n.299+48T>C | |
| ENST00000556077.5:c.453+53T>C | ENSP00000451034.1:n.453+53T>C | |
| ENST00000556133.1:n.90+48T>C | ||
| ENST00000556567.5:n.356+48T>C | ||
| ENST00000556651.5:c.299+48T>C | ENSP00000450993.1:n.299+48T>C | |
| ENST00000614125.4:c.299+48T>C | ENSP00000482306.1:n.299+48T>C | |
| ENST00000622513.4:c.299+48T>C | ENSP00000482721.1:n.299+48T>C | |
| NM_001288781.1:c.299+48T>C | NP_001275710.1:n.299+48T>C | |
| NM_001288782.1:c.-264+48T>C | NP_001275711.1:n.-264+48T>C | |
| NM_001288783.1:c.-359+48T>C | NP_001275712.1:n.-359+48T>C | |
| NM_144596.3:c.329+48T>C | NP_653197.2:n.329+48T>C | |
| NM_198309.3:c.299+48T>C | NP_938051.1:n.299+48T>C | |
| NM_198310.3:c.299+48T>C | NP_938052.1:n.299+48T>C | |
| XM_006720035.1:c.299+48T>C | XP_006720098.1:n.299+48T>C | |
| XM_006720037.2:c.299+48T>C | XP_006720100.1:n.299+48T>C | |
| XM_011536432.1:c.299+48T>C | XP_011534734.1:n.299+48T>C | |
| XM_011536433.1:c.299+48T>C | XP_011534735.1:n.299+48T>C | |
| XM_011536434.1:c.299+48T>C | XP_011534736.1:n.299+48T>C | |
| XM_011536435.1:c.-449+48T>C | XP_011534737.1:n.-449+48T>C | |
| NM_001366535.1:c.299+48T>C | NP_001353464.1:n.299+48T>C | |
| NM_001366536.1:c.299+48T>C | NP_001353465.1:n.299+48T>C | |
| NR_159362.1:n.356+48T>C | ||
| XM_011536433.2:c.299+48T>C | XP_011534735.1:n.299+48T>C | |
| XM_011536434.2:c.299+48T>C | XP_011534736.1:n.299+48T>C | |
| XM_024449477.1:c.-449+48T>C | XP_024305245.1:n.-449+48T>C | |
| NM_001366535.2:c.299+48T>C | NP_001353464.1:n.299+48T>C | |
| NM_001366536.2:c.299+48T>C | NP_001353465.1:n.299+48T>C | |
| NR_159362.2:n.356+48T>C | ||
| NM_144596.4:c.329+48T>C MANE Select | NP_653197.2:n.329+48T>C |