Linked Data
ClinVar Variation Id:
1434532
ClinVar RCV Id:
RCV001962462
dbSNP Id:
rs765795629
ExAC:
4:103682002 G / A
gnomAD v2:
4-103682002-G-A
gnomAD v3:
4-102760845-G-A
gnomAD v4:
4-102760845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102760845G>A , CM000666.2:g.102760845G>A | GRCh38 |
| NC_000004.11:g.103682002G>A , CM000666.1:g.103682002G>A | GRCh37 |
| NC_000004.10:g.103901047G>A | NCBI36 |
| NG_012804.1:g.5150C>T | |
| NG_012804.2:g.5150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.50C>T | ENSP00000495483.1:p.Thr17Ile | |
| ENST00000644159.1:c.50C>T | ENSP00000494462.1:p.Thr17Ile | |
| ENST00000644545.1:c.50C>T | ENSP00000493992.1:p.Thr17Ile | |
| ENST00000644965.1:c.50C>T | ENSP00000495818.1:p.Thr17Ile | |
| ENST00000645348.1:c.50C>T | ENSP00000495363.1:p.Thr17Ile | |
| ENST00000646311.1:c.50C>T | ENSP00000493465.1:p.Thr17Ile | |
| ENST00000646727.1:c.50C>T | ENSP00000493519.1:p.Thr17Ile | |
| ENST00000647097.2:c.50C>T MANE Select | ENSP00000495247.1:p.Thr17Ile | |
| ENST00000226578.8:c.50C>T | ENSP00000226578.4:p.Thr17Ile | |
| ENST00000505239.1:c.50C>T | ENSP00000427322.1:p.Thr17Ile | |
| ENST00000507358.1:n.150C>T | ||
| ENST00000511813.1:c.50C>T | ENSP00000422001.1:p.Thr17Ile | |
| ENST00000514430.5:n.97C>T | ||
| NM_005908.3:c.50C>T | NP_005899.3:p.Thr17Ile | |
| XM_017008204.2:c.-475C>T | XP_016863693.1:n.-475C>T | |
| NM_005908.4:c.50C>T MANE Select | NP_005899.3:p.Thr17Ile |