Linked Data
ClinVar Variation Id:
180784
ClinVar RCV Id:
RCV000157818
RCV000788010
RCV000824913
RCV000809145
RCV001803101
RCV001808428
RCV003992202
dbSNP Id:
rs397516903
ERepo:
CA295904/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140801533A>G , CM000669.2:g.140801533A>G | GRCh38 |
| NC_000007.13:g.140501333A>G , CM000669.1:g.140501333A>G | GRCh37 |
| NC_000007.12:g.140147802A>G | NCBI36 |
| NG_007873.3:g.128232T>C , LRG_299:g.128232T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.739T>C MANE Select | ENSP00000493543.1:p.Phe247Leu | |
| ENST00000288602.11:c.739T>C | ENSP00000288602.7:p.Phe247Leu | |
| ENST00000496384.7:c.739T>C | ENSP00000419060.2:p.Phe247Leu | |
| ENST00000497784.2:c.*189T>C | ENSP00000420119.2:n.*189T>C | |
| ENST00000642228.1:c.739T>C | ENSP00000493678.1:p.Phe247Leu | |
| ENST00000642272.1:n.771T>C | ||
| ENST00000642875.1:n.233T>C | ||
| ENST00000643356.1:n.340T>C | ||
| ENST00000644120.1:n.1181T>C | ||
| ENST00000644905.1:n.828T>C | ||
| ENST00000644969.2:c.739T>C MANE Plus Clinical | ENSP00000496776.1:p.Phe247Leu | |
| ENST00000646730.1:c.739T>C | ENSP00000494784.1:p.Phe247Leu | |
| ENST00000646891.1:c.739T>C | ENSP00000493543.1:p.Phe247Leu | |
| ENST00000288602.10:c.739T>C | ENSP00000288602.6:p.Phe247Leu | |
| ENST00000497784.1:c.774T>C | ENSP00000420119.1:n.774T>C | |
| NM_004333.4:c.739T>C , LRG_299t1:c.739T>C | NP_004324.2:p.Phe247Leu | |
| XM_005250045.1:c.739T>C | XP_005250102.1:p.Phe247Leu | |
| XM_005250046.1:c.739T>C | XP_005250103.1:p.Phe247Leu | |
| XM_011516529.1:c.739T>C | XP_011514831.1:p.Phe247Leu | |
| XM_011516530.1:c.739T>C | XP_011514832.1:p.Phe247Leu | |
| XR_242190.1:n.747T>C | ||
| XR_927520.1:n.747T>C | ||
| XR_927521.1:n.747T>C | ||
| XR_927522.1:n.747T>C | ||
| XR_927523.1:n.747T>C | ||
| NM_001354609.1:c.739T>C | NP_001341538.1:p.Phe247Leu | |
| NM_004333.5:c.739T>C | NP_004324.2:p.Phe247Leu | |
| NR_148928.1:n.1044T>C | ||
| XM_017012558.1:c.739T>C | XP_016868047.1:p.Phe247Leu | |
| XM_017012559.1:c.739T>C | XP_016868048.1:p.Phe247Leu | |
| XR_001744857.1:n.747T>C | ||
| XR_001744858.1:n.747T>C | ||
| NM_001354609.2:c.739T>C | NP_001341538.1:p.Phe247Leu | |
| NM_001374244.1:c.739T>C | NP_001361173.1:p.Phe247Leu | |
| NM_001374258.1:c.739T>C MANE Plus Clinical | NP_001361187.1:p.Phe247Leu | |
| NM_004333.6:c.739T>C MANE Select | NP_004324.2:p.Phe247Leu | |
| NM_001378467.1:c.748T>C | NP_001365396.1:p.Phe250Leu | |
| NM_001378468.1:c.739T>C | NP_001365397.1:p.Phe247Leu | |
| NM_001378469.1:c.739T>C | NP_001365398.1:p.Phe247Leu | |
| NM_001378470.1:c.637T>C | NP_001365399.1:p.Phe213Leu | |
| NM_001378471.1:c.739T>C | NP_001365400.1:p.Phe247Leu | |
| NM_001378472.1:c.583T>C | NP_001365401.1:p.Phe195Leu | |
| NM_001378473.1:c.583T>C | NP_001365402.1:p.Phe195Leu | |
| NM_001378474.1:c.739T>C | NP_001365403.1:p.Phe247Leu | |
| NM_001378475.1:c.475T>C | NP_001365404.1:p.Phe159Leu |