Linked Data
ClinVar Variation Id:
2095479
ClinVar RCV Id:
RCV003013811
dbSNP Id:
rs1562954612
gnomAD v4:
7-140776975-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140776975A>G , CM000669.2:g.140776975A>G | GRCh38 |
| NC_000007.13:g.140476775A>G , CM000669.1:g.140476775A>G | GRCh37 |
| NC_000007.12:g.140123244A>G | NCBI36 |
| NG_007873.3:g.152790T>C , LRG_299:g.152790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1631T>C MANE Select | ENSP00000493543.1:p.Ile544Thr | |
| ENST00000288602.11:c.1751T>C | ENSP00000288602.7:p.Ile584Thr | |
| ENST00000479537.6:c.301T>C | ||
| ENST00000496384.7:c.1631T>C | ENSP00000419060.2:p.Ile544Thr | |
| ENST00000497784.2:c.*1081T>C | ENSP00000420119.2:n.*1081T>C | |
| ENST00000642228.1:c.*709T>C | ENSP00000493678.1:n.*709T>C | |
| ENST00000642875.1:n.1195T>C | ||
| ENST00000644120.1:n.2021T>C | ||
| ENST00000644650.1:c.727T>C | ||
| ENST00000644905.1:n.1720T>C | ||
| ENST00000644969.2:c.1751T>C MANE Plus Clinical | ENSP00000496776.1:p.Ile584Thr | |
| ENST00000646730.1:c.1631T>C | ENSP00000494784.1:p.Ile544Thr | |
| ENST00000646891.1:c.1631T>C | ENSP00000493543.1:p.Ile544Thr | |
| ENST00000647434.1:c.674T>C | ENSP00000495132.1:p.Ile225Thr | |
| ENST00000288602.10:c.1631T>C | ENSP00000288602.6:p.Ile544Thr | |
| ENST00000496384.6:c.454T>C | ||
| ENST00000497784.1:c.1666T>C | ENSP00000420119.1:n.1666T>C | |
| NM_004333.4:c.1631T>C , LRG_299t1:c.1631T>C | NP_004324.2:p.Ile544Thr | |
| XM_005250045.1:c.1631T>C | XP_005250102.1:p.Ile544Thr | |
| XM_005250046.1:c.1631T>C | XP_005250103.1:p.Ile544Thr | |
| XM_011516529.1:c.1631T>C | XP_011514831.1:p.Ile544Thr | |
| XM_011516530.1:c.1631T>C | XP_011514832.1:p.Ile544Thr | |
| XR_242190.1:n.1639T>C | ||
| XR_927520.1:n.1639T>C | ||
| XR_927521.1:n.1639T>C | ||
| XR_927522.1:n.1639T>C | ||
| XR_927523.1:n.1639T>C | ||
| NM_001354609.1:c.1631T>C | NP_001341538.1:p.Ile544Thr | |
| NM_004333.5:c.1631T>C | NP_004324.2:p.Ile544Thr | |
| NR_148928.1:n.1936T>C | ||
| XM_017012558.1:c.1751T>C | XP_016868047.1:p.Ile584Thr | |
| XM_017012559.1:c.1751T>C | XP_016868048.1:p.Ile584Thr | |
| XR_001744857.1:n.1759T>C | ||
| XR_001744858.1:n.1759T>C | ||
| NM_001354609.2:c.1631T>C | NP_001341538.1:p.Ile544Thr | |
| NM_001374244.1:c.1751T>C | NP_001361173.1:p.Ile584Thr | |
| NM_001374258.1:c.1751T>C MANE Plus Clinical | NP_001361187.1:p.Ile584Thr | |
| NM_004333.6:c.1631T>C MANE Select | NP_004324.2:p.Ile544Thr | |
| NM_001378467.1:c.1640T>C | NP_001365396.1:p.Ile547Thr | |
| NM_001378468.1:c.1631T>C | NP_001365397.1:p.Ile544Thr | |
| NM_001378469.1:c.1565T>C | NP_001365398.1:p.Ile522Thr | |
| NM_001378470.1:c.1529T>C | NP_001365399.1:p.Ile510Thr | |
| NM_001378471.1:c.1520T>C | NP_001365400.1:p.Ile507Thr | |
| NM_001378472.1:c.1475T>C | NP_001365401.1:p.Ile492Thr | |
| NM_001378473.1:c.1475T>C | NP_001365402.1:p.Ile492Thr | |
| NM_001378474.1:c.1631T>C | NP_001365403.1:p.Ile544Thr | |
| NM_001378475.1:c.1367T>C | NP_001365404.1:p.Ile456Thr |