Linked Data
ClinVar Variation Id:
3176293
ClinVar RCV Id:
RCV004472169
dbSNP Id:
rs538828274
ExAC:
17:56634404 T / C
gnomAD v2:
17-56634404-T-C
gnomAD v3:
17-58557043-T-C
gnomAD v4:
17-58557043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58557043T>C , CM000679.2:g.58557043T>C | GRCh38 |
| NC_000017.10:g.56634404T>C , CM000679.1:g.56634404T>C | GRCh37 |
| NC_000017.9:g.53989403T>C | NCBI36 |
| NG_047169.1:g.140037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.4324A>G MANE Select | ENSP00000268910.8:p.Ile1442Val | |
| ENST00000240361.12:c.4462A>G | ENSP00000240361.8:p.Ile1488Val | |
| ENST00000349033.9:c.4324A>G | ENSP00000268910.8:p.Ile1442Val | |
| ENST00000389934.7:c.4444A>G | ENSP00000374584.3:p.Ile1482Val | |
| ENST00000582740.1:c.*4162A>G | ENSP00000463593.1:n.*4162A>G | |
| ENST00000584699.5:n.310A>G | ||
| NM_001201457.1:c.4462A>G | NP_001188386.1:p.Ile1488Val | |
| NM_031272.4:c.4324A>G | NP_112562.3:p.Ile1442Val | |
| NM_198393.3:c.4444A>G | NP_938207.2:p.Ile1482Val | |
| XM_011525028.1:c.4567A>G | XP_011523330.1:p.Ile1523Val | |
| XM_011525029.1:c.4567A>G | XP_011523331.1:p.Ile1523Val | |
| XM_011525030.1:c.4564A>G | XP_011523332.1:p.Ile1522Val | |
| XM_011525031.1:c.4498A>G | XP_011523333.1:p.Ile1500Val | |
| XM_011525032.1:c.4330A>G | XP_011523334.1:p.Ile1444Val | |
| XM_011525033.1:c.3268A>G | XP_011523335.1:p.Ile1090Val | |
| XM_011525029.3:c.4567A>G | XP_011523331.1:p.Ile1523Val | |
| XM_017024861.1:c.3268A>G | XP_016880350.1:p.Ile1090Val | |
| NM_001201457.2:c.4462A>G | NP_001188386.1:p.Ile1488Val | |
| NM_031272.5:c.4324A>G MANE Select | NP_112562.3:p.Ile1442Val | |
| NM_198393.4:c.4444A>G | NP_938207.2:p.Ile1482Val |