Linked Data
ClinVar Variation Id:
216349
dbSNP Id:
rs754824872
ExAC:
2:47703572 T / C
gnomAD v2:
2-47703572-T-C
gnomAD v4:
2-47476433-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47476433T>C , CM000664.2:g.47476433T>C | GRCh38 |
| NC_000002.11:g.47703572T>C , CM000664.1:g.47703572T>C | GRCh37 |
| NC_000002.10:g.47557076T>C | NCBI36 |
| NG_007110.2:g.78310T>C , LRG_218:g.78310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2072T>C | ENSP00000495641.2:p.Ile691Thr | |
| ENST00000233146.7:c.2072T>C MANE Select | ENSP00000233146.2:p.Ile691Thr | |
| ENST00000543555.6:c.1874T>C | ENSP00000442697.1:p.Ile625Thr | |
| ENST00000644092.1:c.*372T>C | ENSP00000496351.1:n.*372T>C | |
| ENST00000645339.1:c.2072T>C | ENSP00000496441.1:p.Ile691Thr | |
| ENST00000645506.1:c.2072T>C | ENSP00000495455.1:p.Ile691Thr | |
| ENST00000646415.1:c.2072T>C | ENSP00000495543.1:p.Ile691Thr | |
| ENST00000233146.6:c.2072T>C | ENSP00000233146.2:p.Ile691Thr | |
| ENST00000406134.5:c.2072T>C | ENSP00000384199.1:p.Ile691Thr | |
| ENST00000543555.5:c.1874T>C | ENSP00000442697.1:p.Ile625Thr | |
| ENST00000610696.4:c.*468T>C | ENSP00000483159.1:n.*468T>C | |
| ENST00000613514.4:c.*612T>C | ENSP00000484137.1:n.*612T>C | |
| ENST00000617333.3:c.*838T>C | ENSP00000482468.1:n.*838T>C | |
| ENST00000617938.4:c.*1044T>C | ENSP00000481158.1:n.*1044T>C | |
| ENST00000621359.2:c.2072T>C | ENSP00000481416.1:p.Ile691Thr | |
| NM_000251.2:c.2072T>C , LRG_218t1:c.2072T>C | NP_000242.1:p.Ile691Thr | |
| NM_001258281.1:c.1874T>C | NP_001245210.1:p.Ile625Thr | |
| XM_005264332.2:c.2072T>C | XP_005264389.2:p.Ile691Thr | |
| XM_011532867.1:c.2072T>C | XP_011531169.1:p.Ile691Thr | |
| XR_939685.1:n.2144T>C | ||
| XM_005264332.4:c.2072T>C | XP_005264389.2:p.Ile691Thr | |
| XM_011532867.2:c.2072T>C | XP_011531169.1:p.Ile691Thr | |
| XR_001738747.2:n.2134T>C | ||
| XR_939685.2:n.2134T>C | ||
| NM_000251.3:c.2072T>C MANE Select | NP_000242.1:p.Ile691Thr |