Linked Data
ClinVar Variation Id:
39585
dbSNP Id:
rs151266052
ExAC:
5:240563 C / T
gnomAD v2:
5-240563-C-T
gnomAD v3:
5-240448-C-T
gnomAD v4:
5-240448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.240448C>T , CM000667.2:g.240448C>T | GRCh38 |
| NC_000005.9:g.240563C>T , CM000667.1:g.240563C>T | GRCh37 |
| NC_000005.8:g.293563C>T | NCBI36 |
| NG_012339.1:g.27208C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264932.11:c.1523C>T MANE Select | ENSP00000264932.6:p.Thr508Ile | |
| ENST00000651543.1:c.*256C>T | ENSP00000499215.1:n.*256C>T | |
| ENST00000264932.10:c.1523C>T | ENSP00000264932.6:p.Thr508Ile | |
| ENST00000504309.5:c.1523C>T | ENSP00000426514.1:p.Thr508Ile | |
| ENST00000505555.5:n.1563C>T | ||
| ENST00000509082.1:n.5C>T | ||
| ENST00000510361.5:c.1379C>T | ENSP00000427703.1:p.Thr460Ile | |
| ENST00000511810.5:n.2270C>T | ||
| ENST00000514027.5:n.1478C>T | ||
| ENST00000515752.5:n.1109C>T | ||
| ENST00000515815.5:c.178C>T | ||
| ENST00000617470.4:c.1088C>T | ENSP00000484230.1:p.Thr363Ile | |
| NM_001294332.1:c.1379C>T | NP_001281261.1:p.Thr460Ile | |
| NM_004168.3:c.1523C>T | NP_004159.2:p.Thr508Ile | |
| XM_005248331.2:c.1523C>T | XP_005248388.1:p.Thr508Ile | |
| XM_011514072.1:c.1523C>T | XP_011512374.1:p.Thr508Ile | |
| XM_011514073.1:c.1523C>T | XP_011512375.1:p.Thr508Ile | |
| XR_925638.1:n.1656C>T | ||
| NM_001330758.1:c.1523C>T | NP_001317687.1:p.Thr508Ile | |
| XM_011514072.2:c.1523C>T | XP_011512374.1:p.Thr508Ile | |
| XM_011514073.2:c.1523C>T | XP_011512375.1:p.Thr508Ile | |
| XM_017009685.2:c.1523C>T | XP_016865174.1:p.Thr508Ile | |
| XM_024446143.1:c.1379C>T | XP_024301911.1:p.Thr460Ile | |
| XR_002956167.1:n.1570C>T | ||
| NM_004168.4:c.1523C>T MANE Select | NP_004159.2:p.Thr508Ile | |
| NM_001294332.2:c.1379C>T | NP_001281261.1:p.Thr460Ile | |
| NM_001330758.2:c.1523C>T | NP_001317687.1:p.Thr508Ile |