Linked Data
ClinVar Variation Id:
197493
dbSNP Id:
rs200412477
ExAC:
5:90012465 A / G
gnomAD v2:
5-90012465-A-G
gnomAD v3:
5-90716648-A-G
gnomAD v4:
5-90716648-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716648A>G , CM000667.2:g.90716648A>G | GRCh38 |
| NC_000005.9:g.90012465A>G , CM000667.1:g.90012465A>G | GRCh37 |
| NC_000005.8:g.90048221A>G | NCBI36 |
| NG_007083.1:g.162849A>G | |
| NG_007083.2:g.192305A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.9366A>G MANE Select | ENSP00000384582.2:p.Thr3122= | |
| ENST00000639431.1:c.265+40439A>G | ENSP00000491057.1:n.265+40439A>G | |
| ENST00000639473.1:n.4825A>G | ||
| ENST00000640012.1:c.3173A>G | ||
| ENST00000640374.1:n.2510A>G | ||
| ENST00000640779.1:c.4095A>G | ||
| ENST00000405460.6:c.9366A>G | ENSP00000384582.2:p.Thr3122= | |
| ENST00000509621.1:c.2063A>G | ||
| NM_032119.3:c.9366A>G | NP_115495.3:p.Thr3122= | |
| NR_003149.1:n.9379A>G | ||
| XM_011543675.1:c.9363A>G | XP_011541977.1:p.Thr3121= | |
| XM_011543676.1:c.9285A>G | XP_011541978.1:p.Thr3095= | |
| XM_011543677.1:c.6669A>G | XP_011541979.1:p.Thr2223= | |
| XM_011543678.1:c.9366A>G | XP_011541980.1:p.Thr3122= | |
| XM_011543679.1:c.9366A>G | XP_011541981.1:p.Thr3122= | |
| XR_948560.1:n.272-839T>C | ||
| NM_032119.4:c.9366A>G MANE Select | NP_115495.3:p.Thr3122= | |
| XM_017009963.2:c.9387A>G | XP_016865452.1:p.Thr3129= | |
| XM_017009964.2:c.9384A>G | XP_016865453.1:p.Thr3128= | |
| XM_017009965.1:c.9384A>G | XP_016865454.1:p.Thr3128= | |
| XM_017009966.2:c.9306A>G | XP_016865455.1:p.Thr3102= | |
| XM_017009967.1:c.9291A>G | XP_016865456.1:p.Thr3097= | |
| XM_017009968.2:c.9387A>G | XP_016865457.1:p.Thr3129= | |
| XM_017009969.2:c.9387A>G | XP_016865458.1:p.Thr3129= | |
| XM_017009970.2:c.9387A>G | XP_016865459.1:p.Thr3129= | |
| XM_017009971.2:c.9387A>G | XP_016865460.1:p.Thr3129= | |
| XM_017009972.1:c.2505A>G | XP_016865461.1:p.Thr835= | |
| XM_017009973.1:c.2484A>G | XP_016865462.1:p.Thr828= | |
| XM_017009974.2:c.9387A>G | XP_016865463.1:p.Thr3129= | |
| XR_001742802.1:n.2523-839T>C | ||
| NR_003149.2:n.9382A>G |