Linked Data
ClinVar Variation Id:
2039932
ClinVar RCV Id:
RCV002908003
dbSNP Id:
rs898584203
gnomAD v3:
7-140800342-G-C
gnomAD v4:
7-140800342-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140800342G>C , CM000669.2:g.140800342G>C | GRCh38 |
| NC_000007.13:g.140500142G>C , CM000669.1:g.140500142G>C | GRCh37 |
| NC_000007.12:g.140146611G>C | NCBI36 |
| NG_007873.3:g.129423C>G , LRG_299:g.129423C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.980+20C>G MANE Select | ENSP00000493543.1:n.980+20C>G | |
| ENST00000288602.11:c.980+20C>G | ENSP00000288602.7:n.980+20C>G | |
| ENST00000496384.7:c.980+20C>G | ENSP00000419060.2:n.980+20C>G | |
| ENST00000497784.2:c.*430+20C>G | ENSP00000420119.2:n.*430+20C>G | |
| ENST00000642228.1:c.*58+20C>G | ENSP00000493678.1:n.*58+20C>G | |
| ENST00000642272.1:n.1032C>G | ||
| ENST00000642875.1:n.474+20C>G | ||
| ENST00000644120.1:n.1422+20C>G | ||
| ENST00000644650.1:c.76+20C>G | ||
| ENST00000644905.1:n.1069+20C>G | ||
| ENST00000644969.2:c.980+20C>G MANE Plus Clinical | ENSP00000496776.1:n.980+20C>G | |
| ENST00000646730.1:c.980+20C>G | ENSP00000494784.1:n.980+20C>G | |
| ENST00000646891.1:c.980+20C>G | ENSP00000493543.1:n.980+20C>G | |
| ENST00000647434.1:c.23+20C>G | ENSP00000495132.1:n.23+20C>G | |
| ENST00000288602.10:c.980+20C>G | ENSP00000288602.6:n.980+20C>G | |
| ENST00000497784.1:c.1015+20C>G | ENSP00000420119.1:n.1015+20C>G | |
| NM_004333.4:c.980+20C>G , LRG_299t1:c.980+20C>G | NP_004324.2:n.980+20C>G | |
| XM_005250045.1:c.980+20C>G | XP_005250102.1:n.980+20C>G | |
| XM_005250046.1:c.980+20C>G | XP_005250103.1:n.980+20C>G | |
| XM_011516529.1:c.980+20C>G | XP_011514831.1:n.980+20C>G | |
| XM_011516530.1:c.980+20C>G | XP_011514832.1:n.980+20C>G | |
| XR_242190.1:n.988+20C>G | ||
| XR_927520.1:n.988+20C>G | ||
| XR_927521.1:n.988+20C>G | ||
| XR_927522.1:n.988+20C>G | ||
| XR_927523.1:n.988+20C>G | ||
| NM_001354609.1:c.980+20C>G | NP_001341538.1:n.980+20C>G | |
| NM_004333.5:c.980+20C>G | NP_004324.2:n.980+20C>G | |
| NR_148928.1:n.1285+20C>G | ||
| XM_017012558.1:c.980+20C>G | XP_016868047.1:n.980+20C>G | |
| XM_017012559.1:c.980+20C>G | XP_016868048.1:n.980+20C>G | |
| XR_001744857.1:n.988+20C>G | ||
| XR_001744858.1:n.988+20C>G | ||
| NM_001354609.2:c.980+20C>G | NP_001341538.1:n.980+20C>G | |
| NM_001374244.1:c.980+20C>G | NP_001361173.1:n.980+20C>G | |
| NM_001374258.1:c.980+20C>G MANE Plus Clinical | NP_001361187.1:n.980+20C>G | |
| NM_004333.6:c.980+20C>G MANE Select | NP_004324.2:n.980+20C>G | |
| NM_001378467.1:c.989+20C>G | NP_001365396.1:n.989+20C>G | |
| NM_001378468.1:c.980+20C>G | NP_001365397.1:n.980+20C>G | |
| NM_001378469.1:c.980+20C>G | NP_001365398.1:n.980+20C>G | |
| NM_001378470.1:c.878+20C>G | NP_001365399.1:n.878+20C>G | |
| NM_001378471.1:c.980+20C>G | NP_001365400.1:n.980+20C>G | |
| NM_001378472.1:c.824+20C>G | NP_001365401.1:n.824+20C>G | |
| NM_001378473.1:c.824+20C>G | NP_001365402.1:n.824+20C>G | |
| NM_001378474.1:c.980+20C>G | NP_001365403.1:n.980+20C>G | |
| NM_001378475.1:c.716+20C>G | NP_001365404.1:n.716+20C>G |