Linked Data
ClinVar Variation Id:
851163
ClinVar RCV Id:
RCV001055503
dbSNP Id:
rs2052070776
COSMIC:
COSM1159754
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736718G>A , CM000678.2:g.3736718G>A | GRCh38 |
| NC_000016.9:g.3786719G>A , CM000678.1:g.3786719G>A | GRCh37 |
| NC_000016.8:g.3726720G>A | NCBI36 |
| NG_009873.1:g.148403C>T | |
| NG_009873.2:g.148996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4492C>T MANE Select | ENSP00000262367.5:p.Arg1498Ter | |
| ENST00000262367.9:c.4492C>T | ENSP00000262367.5:p.Arg1498Ter | |
| ENST00000382070.7:c.4378C>T | ENSP00000371502.3:p.Arg1460Ter | |
| ENST00000570939.2:c.3127C>T | ENSP00000461002.2:p.Arg1043Ter | |
| ENST00000571763.5:n.282C>T | ||
| ENST00000574740.1:n.313C>T | ||
| ENST00000576720.1:n.3315C>T | ||
| NM_001079846.1:c.4378C>T | NP_001073315.1:p.Arg1460Ter | |
| NM_004380.2:c.4492C>T | NP_004371.2:p.Arg1498Ter | |
| XM_005255124.3:c.4447C>T | XP_005255181.1:p.Arg1483Ter | |
| XM_005255125.3:c.4075C>T | XP_005255182.1:p.Arg1359Ter | |
| XM_006720848.2:c.4231C>T | XP_006720911.1:p.Arg1411Ter | |
| XM_011522380.1:c.4438C>T | XP_011520682.1:p.Arg1480Ter | |
| XM_011522381.1:c.3739C>T | XP_011520683.1:p.Arg1247Ter | |
| XM_005255124.4:c.4447C>T | XP_005255181.1:p.Arg1483Ter | |
| XM_005255125.4:c.4075C>T | XP_005255182.1:p.Arg1359Ter | |
| XM_006720848.3:c.4231C>T | XP_006720911.1:p.Arg1411Ter | |
| XM_011522381.2:c.3739C>T | XP_011520683.1:p.Arg1247Ter | |
| XM_017022944.1:c.4486C>T | XP_016878433.1:p.Arg1496Ter | |
| NM_004380.3:c.4492C>T MANE Select | NP_004371.2:p.Arg1498Ter |