Linked Data
ClinVar Variation Id:
239870
dbSNP Id:
rs878854675
gnomAD v2:
7-140476745-A-G
gnomAD v3:
7-140776945-A-G
gnomAD v4:
7-140776945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140776945A>G , CM000669.2:g.140776945A>G | GRCh38 |
| NC_000007.13:g.140476745A>G , CM000669.1:g.140476745A>G | GRCh37 |
| NC_000007.12:g.140123214A>G | NCBI36 |
| NG_007873.3:g.152820T>C , LRG_299:g.152820T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1661T>C MANE Select | ENSP00000493543.1:p.Ile554Thr | |
| ENST00000288602.11:c.1781T>C | ENSP00000288602.7:p.Ile594Thr | |
| ENST00000479537.6:c.331T>C | ||
| ENST00000496384.7:c.1661T>C | ENSP00000419060.2:p.Ile554Thr | |
| ENST00000497784.2:c.*1111T>C | ENSP00000420119.2:n.*1111T>C | |
| ENST00000642228.1:c.*739T>C | ENSP00000493678.1:n.*739T>C | |
| ENST00000642875.1:n.1225T>C | ||
| ENST00000644120.1:n.2051T>C | ||
| ENST00000644650.1:c.757T>C | ||
| ENST00000644905.1:n.1750T>C | ||
| ENST00000644969.2:c.1781T>C MANE Plus Clinical | ENSP00000496776.1:p.Ile594Thr | |
| ENST00000646730.1:c.1661T>C | ENSP00000494784.1:p.Ile554Thr | |
| ENST00000646891.1:c.1661T>C | ENSP00000493543.1:p.Ile554Thr | |
| ENST00000647434.1:c.704T>C | ENSP00000495132.1:p.Ile235Thr | |
| ENST00000288602.10:c.1661T>C | ENSP00000288602.6:p.Ile554Thr | |
| ENST00000496384.6:c.484T>C | ||
| ENST00000497784.1:c.1696T>C | ENSP00000420119.1:n.1696T>C | |
| NM_004333.4:c.1661T>C , LRG_299t1:c.1661T>C | NP_004324.2:p.Ile554Thr | |
| XM_005250045.1:c.1661T>C | XP_005250102.1:p.Ile554Thr | |
| XM_005250046.1:c.1661T>C | XP_005250103.1:p.Ile554Thr | |
| XM_011516529.1:c.1661T>C | XP_011514831.1:p.Ile554Thr | |
| XM_011516530.1:c.1661T>C | XP_011514832.1:p.Ile554Thr | |
| XR_242190.1:n.1669T>C | ||
| XR_927520.1:n.1669T>C | ||
| XR_927521.1:n.1669T>C | ||
| XR_927522.1:n.1669T>C | ||
| XR_927523.1:n.1669T>C | ||
| NM_001354609.1:c.1661T>C | NP_001341538.1:p.Ile554Thr | |
| NM_004333.5:c.1661T>C | NP_004324.2:p.Ile554Thr | |
| NR_148928.1:n.1966T>C | ||
| XM_017012558.1:c.1781T>C | XP_016868047.1:p.Ile594Thr | |
| XM_017012559.1:c.1781T>C | XP_016868048.1:p.Ile594Thr | |
| XR_001744857.1:n.1789T>C | ||
| XR_001744858.1:n.1789T>C | ||
| NM_001354609.2:c.1661T>C | NP_001341538.1:p.Ile554Thr | |
| NM_001374244.1:c.1781T>C | NP_001361173.1:p.Ile594Thr | |
| NM_001374258.1:c.1781T>C MANE Plus Clinical | NP_001361187.1:p.Ile594Thr | |
| NM_004333.6:c.1661T>C MANE Select | NP_004324.2:p.Ile554Thr | |
| NM_001378467.1:c.1670T>C | NP_001365396.1:p.Ile557Thr | |
| NM_001378468.1:c.1661T>C | NP_001365397.1:p.Ile554Thr | |
| NM_001378469.1:c.1595T>C | NP_001365398.1:p.Ile532Thr | |
| NM_001378470.1:c.1559T>C | NP_001365399.1:p.Ile520Thr | |
| NM_001378471.1:c.1550T>C | NP_001365400.1:p.Ile517Thr | |
| NM_001378472.1:c.1505T>C | NP_001365401.1:p.Ile502Thr | |
| NM_001378473.1:c.1505T>C | NP_001365402.1:p.Ile502Thr | |
| NM_001378474.1:c.1661T>C | NP_001365403.1:p.Ile554Thr | |
| NM_001378475.1:c.1397T>C | NP_001365404.1:p.Ile466Thr |