Linked Data
ClinVar Variation Id:
135860
ClinVar RCV Id:
RCV000122988
RCV000412095
RCV001558333
RCV002251992
RCV000573859
RCV003997408
RCV004542928
dbSNP Id:
rs587780687
gnomAD v2:
2-47710000-T-C
gnomAD v3:
2-47482861-T-C
gnomAD v4:
2-47482861-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482861T>C , CM000664.2:g.47482861T>C | GRCh38 |
| NC_000002.11:g.47710000T>C , CM000664.1:g.47710000T>C | GRCh37 |
| NC_000002.10:g.47563504T>C | NCBI36 |
| NG_007110.2:g.84738T>C , LRG_218:g.84738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+1990T>C | ENSP00000495641.2:n.2634+1990T>C | |
| ENST00000233146.7:c.2717T>C MANE Select | ENSP00000233146.2:p.Ile906Thr | |
| ENST00000543555.6:c.2519T>C | ENSP00000442697.1:p.Ile840Thr | |
| ENST00000644092.1:c.*934+1990T>C | ENSP00000496351.1:n.*934+1990T>C | |
| ENST00000644900.1:c.487+1990T>C | ||
| ENST00000645339.1:c.2634+1990T>C | ENSP00000496441.1:n.2634+1990T>C | |
| ENST00000645506.1:c.2634+1990T>C | ENSP00000495455.1:n.2634+1990T>C | |
| ENST00000646415.1:c.2634+1990T>C | ENSP00000495543.1:n.2634+1990T>C | |
| ENST00000233146.6:c.2717T>C | ENSP00000233146.2:p.Ile906Thr | |
| ENST00000406134.5:c.2634+1990T>C | ENSP00000384199.1:n.2634+1990T>C | |
| ENST00000461394.5:n.75+1990T>C | ||
| ENST00000543555.5:c.2519T>C | ENSP00000442697.1:p.Ile840Thr | |
| ENST00000610696.4:c.*1113T>C | ENSP00000483159.1:n.*1113T>C | |
| ENST00000613514.4:c.*1257T>C | ENSP00000484137.1:n.*1257T>C | |
| ENST00000617333.3:c.*1483T>C | ENSP00000482468.1:n.*1483T>C | |
| ENST00000617938.4:c.*1689T>C | ENSP00000481158.1:n.*1689T>C | |
| ENST00000621359.2:c.*283T>C | ENSP00000481416.1:n.*283T>C | |
| NM_000251.2:c.2717T>C , LRG_218t1:c.2717T>C | NP_000242.1:p.Ile906Thr | |
| NM_001258281.1:c.2519T>C | NP_001245210.1:p.Ile840Thr | |
| XM_005264332.2:c.2634+1990T>C | XP_005264389.2:n.2634+1990T>C | |
| XM_011532867.1:c.2634+1990T>C | XP_011531169.1:n.2634+1990T>C | |
| XR_939685.1:n.2706+1990T>C | ||
| XM_005264332.4:c.2634+1990T>C | XP_005264389.2:n.2634+1990T>C | |
| XM_011532867.2:c.2634+1990T>C | XP_011531169.1:n.2634+1990T>C | |
| XR_001738747.2:n.2696+1990T>C | ||
| XR_939685.2:n.2696+1990T>C | ||
| NM_000251.3:c.2717T>C MANE Select | NP_000242.1:p.Ile906Thr |