Linked Data
ClinVar Variation Id:
2200532
ClinVar RCV Id:
RCV002638263
dbSNP Id:
rs1446858208
gnomAD v2:
3-182755020-G-A
gnomAD v4:
3-183037232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037232G>A , CM000665.2:g.183037232G>A | GRCh38 |
| NC_000003.11:g.182755020G>A , CM000665.1:g.182755020G>A | GRCh37 |
| NC_000003.10:g.184237714G>A | NCBI36 |
| NG_008100.1:g.67346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1580C>T MANE Select | ENSP00000265594.4:p.Thr527Ile | |
| ENST00000265594.8:c.1580C>T | ENSP00000265594.4:p.Thr527Ile | |
| ENST00000476176.5:c.1439C>T | ENSP00000420433.1:p.Thr480Ile | |
| ENST00000489909.1:n.124C>T | ||
| ENST00000492597.5:c.1253C>T | ENSP00000419898.1:p.Thr418Ile | |
| ENST00000495767.5:c.*1161C>T | ENSP00000419658.1:n.*1161C>T | |
| ENST00000497830.5:c.*1177C>T | ENSP00000420088.1:n.*1177C>T | |
| ENST00000497959.5:c.1263+1794C>T | ENSP00000420648.1:n.1263+1794C>T | |
| ENST00000539926.5:c.1130C>T | ENSP00000441253.2:p.Thr377Ile | |
| ENST00000610757.4:c.1130C>T | ENSP00000480435.1:p.Thr377Ile | |
| ENST00000629669.2:c.1263+1794C>T | ENSP00000486824.1:n.1263+1794C>T | |
| NM_001293273.1:c.1229C>T | NP_001280202.1:p.Thr410Ile | |
| NM_020166.4:c.1580C>T | NP_064551.3:p.Thr527Ile | |
| NR_120639.1:n.1494C>T | ||
| NR_120640.1:n.2044+1794C>T | ||
| XM_006713702.1:c.1253C>T | XP_006713765.1:p.Thr418Ile | |
| XM_011512992.1:c.1466C>T | XP_011511294.1:p.Thr489Ile | |
| XM_011512993.1:c.1377+1794C>T | XP_011511295.1:n.1377+1794C>T | |
| XR_241502.2:n.1524+1794C>T | ||
| XR_924159.1:n.1727C>T | ||
| NM_001363880.1:c.1253C>T | NP_001350809.1:p.Thr418Ile | |
| XM_011512992.2:c.1466C>T | XP_011511294.1:p.Thr489Ile | |
| XR_001740207.2:n.1703C>T | ||
| XR_001740208.2:n.1703C>T | ||
| XR_001740209.2:n.1470+1794C>T | ||
| XR_001740210.1:n.1533C>T | ||
| XR_002959553.1:n.1703C>T | ||
| XR_002959554.1:n.1500+1794C>T | ||
| XR_241502.3:n.1470+1794C>T | ||
| NM_020166.5:c.1580C>T MANE Select | NP_064551.3:p.Thr527Ile | |
| NM_001293273.2:c.1229C>T | NP_001280202.1:p.Thr410Ile | |
| NR_120639.2:n.1403C>T | ||
| NR_120640.2:n.2044+1794C>T |