Linked Data
ClinVar Variation Id:
13979
dbSNP Id:
rs180177040
gnomAD v4:
7-140754187-T-C
PubMed:
PMID:4386970
PMID:5771505
PMID:16439621
PMID:16474404
PMID:16523510
PMID:16825433
PMID:17366577
PMID:17704260
PMID:18039235
PMID:18042262
PMID:18413255
PMID:18470943
PMID:19206169
PMID:19376813
PMID:20186801
PMID:22876591
PMID:23093928
PMID:23875798
PMID:24037001
PMID:25463315
ERepo:
CA279976/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140754187T>C , CM000669.2:g.140754187T>C | GRCh38 |
| NC_000007.13:g.140453987T>C , CM000669.1:g.140453987T>C | GRCh37 |
| NC_000007.12:g.140100456T>C | NCBI36 |
| NG_007873.3:g.175578A>G , LRG_299:g.175578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1741A>G MANE Select | ENSP00000493543.1:p.Asn581Asp | |
| ENST00000288602.11:c.1861A>G | ENSP00000288602.7:p.Asn621Asp | |
| ENST00000479537.6:c.411A>G | ||
| ENST00000496384.7:c.1741A>G | ENSP00000419060.2:p.Asn581Asp | |
| ENST00000497784.2:c.*1191A>G | ENSP00000420119.2:n.*1191A>G | |
| ENST00000642228.1:c.*819A>G | ENSP00000493678.1:n.*819A>G | |
| ENST00000642875.1:n.1259-4769A>G | ||
| ENST00000644120.1:n.2131A>G | ||
| ENST00000644650.1:c.837A>G | ||
| ENST00000644905.1:n.1830A>G | ||
| ENST00000644969.2:c.1861A>G MANE Plus Clinical | ENSP00000496776.1:p.Asn621Asp | |
| ENST00000646730.1:c.*317A>G | ENSP00000494784.1:n.*317A>G | |
| ENST00000646891.1:c.1741A>G | ENSP00000493543.1:p.Asn581Asp | |
| ENST00000647434.1:c.738-4769A>G | ENSP00000495132.1:n.738-4769A>G | |
| ENST00000288602.10:c.1741A>G | ENSP00000288602.6:p.Asn581Asp | |
| ENST00000479537.5:c.25A>G | ENSP00000418033.1:p.Asn9Asp | |
| ENST00000496384.6:c.564A>G | ||
| ENST00000497784.1:c.1776A>G | ENSP00000420119.1:n.1776A>G | |
| NM_004333.4:c.1741A>G , LRG_299t1:c.1741A>G | NP_004324.2:p.Asn581Asp | |
| XM_005250045.1:c.1741A>G | XP_005250102.1:p.Asn581Asp | |
| XM_005250046.1:c.1741A>G | XP_005250103.1:p.Asn581Asp | |
| XM_011516529.1:c.1741A>G | XP_011514831.1:p.Asn581Asp | |
| XM_011516530.1:c.1695-4769A>G | XP_011514832.1:n.1695-4769A>G | |
| XR_242190.1:n.1749A>G | ||
| XR_927520.1:n.1749A>G | ||
| XR_927521.1:n.1749A>G | ||
| XR_927522.1:n.1703-4769A>G | ||
| XR_927523.1:n.1703-4769A>G | ||
| NM_001354609.1:c.1741A>G | NP_001341538.1:p.Asn581Asp | |
| NM_004333.5:c.1741A>G | NP_004324.2:p.Asn581Asp | |
| NR_148928.1:n.2046A>G | ||
| XM_017012558.1:c.1861A>G | XP_016868047.1:p.Asn621Asp | |
| XM_017012559.1:c.1861A>G | XP_016868048.1:p.Asn621Asp | |
| XR_001744857.1:n.1869A>G | ||
| XR_001744858.1:n.1823-4769A>G | ||
| NM_001354609.2:c.1741A>G | NP_001341538.1:p.Asn581Asp | |
| NM_001374244.1:c.1861A>G | NP_001361173.1:p.Asn621Asp | |
| NM_001374258.1:c.1861A>G MANE Plus Clinical | NP_001361187.1:p.Asn621Asp | |
| NM_004333.6:c.1741A>G MANE Select | NP_004324.2:p.Asn581Asp | |
| NM_001378467.1:c.1750A>G | NP_001365396.1:p.Asn584Asp | |
| NM_001378468.1:c.1741A>G | NP_001365397.1:p.Asn581Asp | |
| NM_001378469.1:c.1675A>G | NP_001365398.1:p.Asn559Asp | |
| NM_001378470.1:c.1639A>G | NP_001365399.1:p.Asn547Asp | |
| NM_001378471.1:c.1630A>G | NP_001365400.1:p.Asn544Asp | |
| NM_001378472.1:c.1585A>G | NP_001365401.1:p.Asn529Asp | |
| NM_001378473.1:c.1585A>G | NP_001365402.1:p.Asn529Asp | |
| NM_001378474.1:c.1741A>G | NP_001365403.1:p.Asn581Asp | |
| NM_001378475.1:c.1477A>G | NP_001365404.1:p.Asn493Asp |