Linked Data
ClinVar Variation Id:
13973
ClinVar RCV Id:
RCV000015007
RCV000033289
RCV000080904
RCV000208766
RCV000507717
RCV000623239
RCV001027771
RCV001261967
RCV001329219
RCV001813208
RCV001813744
RCV003224098
dbSNP Id:
rs180177035
gnomAD v4:
7-140801502-T-C
ERepo:
CA222583/MONDO:0015280/004
PubMed:
PMID:4386970
PMID:5771505
PMID:16439621
PMID:16474404
PMID:16523510
PMID:16825433
PMID:17366577
PMID:17551924
PMID:17703371
PMID:18039235
PMID:18413255
PMID:18456719
PMID:18854871
PMID:19206169
PMID:19376813
PMID:20301365
PMID:21784453
PMID:22301711
PMID:22495831
PMID:23875798
PMID:24088041
PMID:24409384
PMID:24719372
PMID:24775816
PMID:25035421
PMID:26633545
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140801502T>C , CM000669.2:g.140801502T>C | GRCh38 |
| NC_000007.13:g.140501302T>C , CM000669.1:g.140501302T>C | GRCh37 |
| NC_000007.12:g.140147771T>C | NCBI36 |
| NG_007873.3:g.128263A>G , LRG_299:g.128263A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.770A>G MANE Select | ENSP00000493543.1:p.Gln257Arg | |
| ENST00000288602.11:c.770A>G | ENSP00000288602.7:p.Gln257Arg | |
| ENST00000496384.7:c.770A>G | ENSP00000419060.2:p.Gln257Arg | |
| ENST00000497784.2:c.*220A>G | ENSP00000420119.2:n.*220A>G | |
| ENST00000642228.1:c.770A>G | ENSP00000493678.1:p.Gln257Arg | |
| ENST00000642272.1:n.802A>G | ||
| ENST00000642875.1:n.264A>G | ||
| ENST00000643356.1:n.371A>G | ||
| ENST00000644120.1:n.1212A>G | ||
| ENST00000644905.1:n.859A>G | ||
| ENST00000644969.2:c.770A>G MANE Plus Clinical | ENSP00000496776.1:p.Gln257Arg | |
| ENST00000646730.1:c.770A>G | ENSP00000494784.1:p.Gln257Arg | |
| ENST00000646891.1:c.770A>G | ENSP00000493543.1:p.Gln257Arg | |
| ENST00000288602.10:c.770A>G | ENSP00000288602.6:p.Gln257Arg | |
| ENST00000497784.1:c.805A>G | ENSP00000420119.1:n.805A>G | |
| NM_004333.4:c.770A>G , LRG_299t1:c.770A>G | NP_004324.2:p.Gln257Arg | |
| XM_005250045.1:c.770A>G | XP_005250102.1:p.Gln257Arg | |
| XM_005250046.1:c.770A>G | XP_005250103.1:p.Gln257Arg | |
| XM_011516529.1:c.770A>G | XP_011514831.1:p.Gln257Arg | |
| XM_011516530.1:c.770A>G | XP_011514832.1:p.Gln257Arg | |
| XR_242190.1:n.778A>G | ||
| XR_927520.1:n.778A>G | ||
| XR_927521.1:n.778A>G | ||
| XR_927522.1:n.778A>G | ||
| XR_927523.1:n.778A>G | ||
| NM_001354609.1:c.770A>G | NP_001341538.1:p.Gln257Arg | |
| NM_004333.5:c.770A>G | NP_004324.2:p.Gln257Arg | |
| NR_148928.1:n.1075A>G | ||
| XM_017012558.1:c.770A>G | XP_016868047.1:p.Gln257Arg | |
| XM_017012559.1:c.770A>G | XP_016868048.1:p.Gln257Arg | |
| XR_001744857.1:n.778A>G | ||
| XR_001744858.1:n.778A>G | ||
| NM_001354609.2:c.770A>G | NP_001341538.1:p.Gln257Arg | |
| NM_001374244.1:c.770A>G | NP_001361173.1:p.Gln257Arg | |
| NM_001374258.1:c.770A>G MANE Plus Clinical | NP_001361187.1:p.Gln257Arg | |
| NM_004333.6:c.770A>G MANE Select | NP_004324.2:p.Gln257Arg | |
| NM_001378467.1:c.779A>G | NP_001365396.1:p.Gln260Arg | |
| NM_001378468.1:c.770A>G | NP_001365397.1:p.Gln257Arg | |
| NM_001378469.1:c.770A>G | NP_001365398.1:p.Gln257Arg | |
| NM_001378470.1:c.668A>G | NP_001365399.1:p.Gln223Arg | |
| NM_001378471.1:c.770A>G | NP_001365400.1:p.Gln257Arg | |
| NM_001378472.1:c.614A>G | NP_001365401.1:p.Gln205Arg | |
| NM_001378473.1:c.614A>G | NP_001365402.1:p.Gln205Arg | |
| NM_001378474.1:c.770A>G | NP_001365403.1:p.Gln257Arg | |
| NM_001378475.1:c.506A>G | NP_001365404.1:p.Gln169Arg |