Linked Data
ClinVar Variation Id:
2016873
ClinVar RCV Id:
RCV002851796
dbSNP Id:
rs1334927782
gnomAD v2:
3-39436003-C-T
gnomAD v4:
3-39394512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394512C>T , CM000665.2:g.39394512C>T | GRCh38 |
| NC_000003.11:g.39436003C>T , CM000665.1:g.39436003C>T | GRCh37 |
| NC_000003.10:g.39411007C>T | NCBI36 |
| NG_016931.1:g.16189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.680C>T | ENSP00000495376.1:p.Thr227Ile | |
| ENST00000643672.1:c.677C>T | ENSP00000494532.1:p.Thr226Ile | |
| ENST00000645280.1:c.674C>T | ENSP00000496690.1:p.Thr225Ile | |
| ENST00000648579.1:c.*25C>T | ENSP00000497638.1:n.*25C>T | |
| ENST00000650617.1:c.728C>T MANE Select | ENSP00000497532.1:p.Thr243Ile | |
| ENST00000273158.8:c.728C>T | ENSP00000273158.3:p.Thr243Ile | |
| NM_017875.2:c.728C>T | NP_060345.2:p.Thr243Ile | |
| XM_006713214.1:c.716C>T | XP_006713277.1:p.Thr239Ile | |
| XM_011533869.1:c.710C>T | XP_011532171.1:p.Thr237Ile | |
| XM_011533870.1:c.677C>T | XP_011532172.1:p.Thr226Ile | |
| XM_011533871.1:c.548C>T | XP_011532173.1:p.Thr183Ile | |
| NM_001354798.1:c.626-1886C>T | NP_001341727.1:n.626-1886C>T | |
| NM_017875.4:c.728C>T MANE Select | NP_060345.2:p.Thr243Ile | |
| XM_006713214.2:c.716C>T | XP_006713277.1:p.Thr239Ile | |
| XM_011533869.2:c.710C>T | XP_011532171.1:p.Thr237Ile | |
| XM_024453611.1:c.674C>T | XP_024309379.1:p.Thr225Ile | |
| NM_001354798.2:c.626-1886C>T | NP_001341727.1:n.626-1886C>T |