Linked Data
ClinVar Variation Id:
5000
ClinVar RCV Id:
RCV003320352
dbSNP Id:
rs267607144
COSMIC:
COSM3398335
PubMed:
PMID:956253
PMID:1520078
PMID:4056805
PMID:8179305
PMID:11891693
PMID:14755468
PMID:18587396
PMID:19232556
PMID:20037586
PMID:20037587
PMID:20037588
PMID:20104247
PMID:20301462
PMID:20425821
PMID:20460441
PMID:20503319
PMID:20577006
PMID:21115951
PMID:21288981
PMID:21454511
PMID:21964574
PMID:22702953
PMID:22791502
PMID:22851605
PMID:24575025
PMID:24677493
PMID:24789864
PMID:24830047
PMID:25900305
PMID:26249260
PMID:27330106
PMID:28898540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109800665C>T , CM000674.2:g.109800665C>T | GRCh38 |
| NC_000012.11:g.110238470C>T , CM000674.1:g.110238470C>T | GRCh37 |
| NC_000012.10:g.108722853C>T | NCBI36 |
| NG_017090.1:g.37743G>A , LRG_372:g.37743G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261740.7:c.806G>A MANE Select | ENSP00000261740.2:p.Arg269His | |
| ENST00000418703.7:c.806G>A | ENSP00000406191.2:p.Arg269His | |
| ENST00000674908.1:c.835G>A | ENSP00000502012.1:p.Val279Met | |
| ENST00000675533.1:n.837G>A | ||
| ENST00000675670.1:c.806G>A | ENSP00000502135.1:p.Arg269His | |
| ENST00000676376.1:n.837G>A | ||
| ENST00000261740.6:c.806G>A | ENSP00000261740.2:p.Arg269His | |
| ENST00000418703.6:c.806G>A | ENSP00000406191.2:p.Arg269His | |
| ENST00000536838.1:c.704G>A | ENSP00000444336.1:p.Arg235His | |
| ENST00000537083.5:c.806G>A | ENSP00000442738.1:p.Arg269His | |
| ENST00000538125.5:c.806G>A | ENSP00000437449.1:p.Arg269His | |
| ENST00000541794.5:c.713-1753G>A | ENSP00000442167.1:n.713-1753G>A | |
| ENST00000544971.5:c.713-1753G>A | ENSP00000443611.1:n.713-1753G>A | |
| NM_001177428.1:c.713-1753G>A | NP_001170899.1:n.713-1753G>A | |
| NM_001177431.1:c.704G>A | NP_001170902.1:p.Arg235His | |
| NM_001177433.1:c.713-1753G>A | NP_001170904.1:n.713-1753G>A | |
| NM_021625.4:c.806G>A , LRG_372t1:c.806G>A | NP_067638.3:p.Arg269His | |
| NM_147204.2:c.806G>A | NP_671737.1:p.Arg269His | |
| XM_005253918.1:c.806G>A | XP_005253975.1:p.Arg269His | |
| XM_011538630.1:c.806G>A | XP_011536932.1:p.Arg269His | |
| XM_011538631.1:c.713-1753G>A | XP_011536933.1:n.713-1753G>A | |
| XM_011538632.1:c.806G>A | XP_011536934.1:p.Arg269His | |
| XM_011538633.1:c.713-1753G>A | XP_011536935.1:n.713-1753G>A | |
| XM_011538634.1:c.806G>A | XP_011536936.1:p.Arg269His | |
| XM_011538635.1:c.959G>A | XP_011536937.1:p.Arg320His | |
| XM_011538636.1:c.959G>A | XP_011536938.1:p.Arg320His | |
| XM_011538630.2:c.959G>A | XP_011536932.2:p.Arg320His | |
| XM_011538631.2:c.866-1753G>A | XP_011536933.2:n.866-1753G>A | |
| XM_011538632.2:c.959G>A | XP_011536934.2:p.Arg320His | |
| XM_011538633.2:c.866-1753G>A | XP_011536935.2:n.866-1753G>A | |
| XM_011538634.2:c.959G>A | XP_011536936.2:p.Arg320His | |
| XM_011538635.2:c.959G>A | XP_011536937.1:p.Arg320His | |
| XM_017019774.1:c.806G>A | XP_016875263.1:p.Arg269His | |
| NM_021625.5:c.806G>A MANE Select | NP_067638.3:p.Arg269His |