Linked Data
ClinVar Variation Id:
2530
dbSNP Id:
rs119103286
ExAC:
14:89307540 G / A
gnomAD v2:
14-89307540-G-A
gnomAD v3:
14-88841196-G-A
gnomAD v4:
14-88841196-G-A
PubMed:
PMID:16308660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88841196G>A , CM000676.2:g.88841196G>A | GRCh38 |
| NC_000014.8:g.89307540G>A , CM000676.1:g.89307540G>A | GRCh37 |
| NC_000014.7:g.88377293G>A | NCBI36 |
| NG_008126.1:g.21563G>A | |
| NG_008126.2:g.22044G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380656.7:c.489G>A MANE Select | ENSP00000370031.2:p.Thr163= | |
| ENST00000338104.10:c.459G>A | ENSP00000337653.6:p.Thr153= | |
| ENST00000345383.9:c.489G>A | ENSP00000339486.6:p.Thr163= | |
| ENST00000346301.8:c.459G>A | ENSP00000298324.6:p.Thr153= | |
| ENST00000354441.10:c.114+16375G>A | ENSP00000346427.6:n.114+16375G>A | |
| ENST00000358622.9:c.-104G>A | ENSP00000351439.5:n.-104G>A | |
| ENST00000380656.6:c.489G>A | ENSP00000370031.2:p.Thr163= | |
| ENST00000536576.5:c.459G>A | ENSP00000445067.2:p.Thr153= | |
| ENST00000554686.5:c.428G>A | ||
| ENST00000555057.5:c.459G>A | ENSP00000450951.1:p.Thr153= | |
| ENST00000556077.5:c.613G>A | ENSP00000451034.1:p.Gly205Ser | |
| ENST00000556133.1:n.250G>A | ||
| ENST00000556567.5:n.516G>A | ||
| ENST00000556651.5:c.459G>A | ENSP00000450993.1:p.Thr153= | |
| ENST00000614125.4:c.459G>A | ENSP00000482306.1:p.Thr153= | |
| ENST00000622513.4:c.459G>A | ENSP00000482721.1:p.Thr153= | |
| NM_001288781.1:c.459G>A | NP_001275710.1:p.Thr153= | |
| NM_001288782.1:c.-104G>A | NP_001275711.1:n.-104G>A | |
| NM_001288783.1:c.-199G>A | NP_001275712.1:n.-199G>A | |
| NM_144596.3:c.489G>A | NP_653197.2:p.Thr163= | |
| NM_198309.3:c.459G>A | NP_938051.1:p.Thr153= | |
| NM_198310.3:c.459G>A | NP_938052.1:p.Thr153= | |
| XM_006720035.1:c.459G>A | XP_006720098.1:p.Thr153= | |
| XM_006720037.2:c.459G>A | XP_006720100.1:p.Thr153= | |
| XM_011536432.1:c.459G>A | XP_011534734.1:p.Thr153= | |
| XM_011536433.1:c.459G>A | XP_011534735.1:p.Thr153= | |
| XM_011536434.1:c.459G>A | XP_011534736.1:p.Thr153= | |
| XM_011536435.1:c.-289G>A | XP_011534737.1:n.-289G>A | |
| NM_001366535.1:c.459G>A | NP_001353464.1:p.Thr153= | |
| NM_001366536.1:c.459G>A | NP_001353465.1:p.Thr153= | |
| NR_159362.1:n.516G>A | ||
| XM_011536433.2:c.459G>A | XP_011534735.1:p.Thr153= | |
| XM_011536434.2:c.459G>A | XP_011534736.1:p.Thr153= | |
| XM_024449477.1:c.-289G>A | XP_024305245.1:n.-289G>A | |
| NM_001366535.2:c.459G>A | NP_001353464.1:p.Thr153= | |
| NM_001366536.2:c.459G>A | NP_001353465.1:p.Thr153= | |
| NR_159362.2:n.516G>A | ||
| NM_144596.4:c.489G>A MANE Select | NP_653197.2:p.Thr163= |