Linked Data
ClinVar Variation Id:
215974
dbSNP Id:
rs150896551
ExAC:
14:89337920 C / T
gnomAD v2:
14-89337920-C-T
gnomAD v3:
14-88871576-C-T
gnomAD v4:
14-88871576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88871576C>T , CM000676.2:g.88871576C>T | GRCh38 |
| NC_000014.8:g.89337920C>T , CM000676.1:g.89337920C>T | GRCh37 |
| NC_000014.7:g.88407673C>T | NCBI36 |
| NG_008126.1:g.51943C>T | |
| NG_008126.2:g.52424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1077C>T MANE Select | ENSP00000370031.2:p.Asn359= | |
| ENST00000557580.3:c.442C>T | ENSP00000451955.2:n.442C>T | |
| ENST00000338104.10:c.1125C>T | ENSP00000337653.6:p.Asn375= | |
| ENST00000345383.9:c.1077C>T | ENSP00000339486.6:p.Asn359= | |
| ENST00000346301.8:c.957C>T | ENSP00000298324.6:p.Asn319= | |
| ENST00000354441.10:c.282C>T | ENSP00000346427.6:p.Asn94= | |
| ENST00000358622.9:c.483C>T | ENSP00000351439.5:p.Asn161= | |
| ENST00000380656.6:c.1077C>T | ENSP00000370031.2:p.Asn359= | |
| ENST00000536576.5:c.957C>T | ENSP00000445067.2:p.Asn319= | |
| ENST00000554686.5:c.926C>T | ||
| ENST00000555057.5:c.*484C>T | ENSP00000450951.1:n.*484C>T | |
| ENST00000557580.2:c.442C>T | ||
| ENST00000614125.4:c.1125C>T | ENSP00000482306.1:p.Asn375= | |
| ENST00000622513.4:c.1047C>T | ENSP00000482721.1:p.Asn349= | |
| NM_001288781.1:c.1125C>T | NP_001275710.1:p.Asn375= | |
| NM_001288782.1:c.483C>T | NP_001275711.1:p.Asn161= | |
| NM_001288783.1:c.360C>T | NP_001275712.1:p.Asn120= | |
| NM_144596.3:c.1077C>T | NP_653197.2:p.Asn359= | |
| NM_198309.3:c.1047C>T | NP_938051.1:p.Asn349= | |
| NM_198310.3:c.957C>T | NP_938052.1:p.Asn319= | |
| XM_006720035.1:c.1047C>T | XP_006720098.1:p.Asn349= | |
| XM_006720037.2:c.957C>T | XP_006720100.1:p.Asn319= | |
| XM_011536432.1:c.1125C>T | XP_011534734.1:p.Asn375= | |
| XM_011536433.1:c.1125C>T | XP_011534735.1:p.Asn375= | |
| XM_011536434.1:c.1035C>T | XP_011534736.1:p.Asn345= | |
| XM_011536435.1:c.360C>T | XP_011534737.1:p.Asn120= | |
| NM_001366535.1:c.1047C>T | NP_001353464.1:p.Asn349= | |
| NM_001366536.1:c.957C>T | NP_001353465.1:p.Asn319= | |
| NR_159362.1:n.1164C>T | ||
| XM_011536433.2:c.1125C>T | XP_011534735.1:p.Asn375= | |
| XM_011536434.2:c.1035C>T | XP_011534736.1:p.Asn345= | |
| XM_024449477.1:c.360C>T | XP_024305245.1:p.Asn120= | |
| NM_001366535.2:c.1047C>T | NP_001353464.1:p.Asn349= | |
| NM_001366536.2:c.957C>T | NP_001353465.1:p.Asn319= | |
| NR_159362.2:n.1164C>T | ||
| NM_144596.4:c.1077C>T MANE Select | NP_653197.2:p.Asn359= |