Linked Data
ClinVar Variation Id:
1382400
ClinVar RCV Id:
RCV001890257
dbSNP Id:
rs141766103
ExAC:
17:45299102 T / C
gnomAD v2:
17-45299102-T-C
gnomAD v3:
17-47221736-T-C
gnomAD v4:
17-47221736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221736T>C , CM000679.2:g.47221736T>C | GRCh38 |
| NC_000017.10:g.45299102T>C , CM000679.1:g.45299102T>C | GRCh37 |
| NC_000017.9:g.42654101T>C | NCBI36 |
| NG_052847.1:g.17720T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.368T>C | ENSP00000347055.1:p.Ile123Thr | |
| ENST00000393450.5:c.368T>C MANE Select | ENSP00000377096.1:p.Ile123Thr | |
| ENST00000536623.6:c.368T>C | ENSP00000442375.2:p.Ile123Thr | |
| ENST00000570671.1:c.79T>C | ||
| ENST00000570772.5:c.*154T>C | ENSP00000458194.1:n.*154T>C | |
| ENST00000571981.5:c.*154T>C | ENSP00000459035.1:n.*154T>C | |
| ENST00000572303.1:c.461T>C | ENSP00000461747.1:p.Ile154Thr | |
| ENST00000572316.5:c.368T>C | ENSP00000461570.1:p.Ile123Thr | |
| ENST00000573747.6:c.318T>C | ENSP00000460734.1:p.His106= | |
| ENST00000576874.5:c.368T>C | ENSP00000458907.1:p.Ile123Thr | |
| NM_001002841.1:c.368T>C | NP_001002841.1:p.Ile123Thr | |
| NM_002476.2:c.368T>C MANE Select | NP_002467.1:p.Ile123Thr | |
| XM_005257391.3:c.368T>C | XP_005257448.1:p.Ile123Thr | |
| XM_011524838.1:c.368T>C | XP_011523140.1:p.Ile123Thr | |
| XM_011524839.1:c.158T>C | XP_011523141.1:p.Ile53Thr | |
| XM_005257391.5:c.368T>C | XP_005257448.1:p.Ile123Thr | |
| XM_011524839.2:c.461T>C | XP_011523141.2:p.Ile154Thr | |
| XM_017024683.1:c.461T>C | XP_016880172.1:p.Ile154Thr | |
| XM_024450766.1:c.461T>C | XP_024306534.1:p.Ile154Thr | |
| NM_001002841.2:c.368T>C | NP_001002841.1:p.Ile123Thr |