Linked Data
ClinVar Variation Id:
478201
dbSNP Id:
rs1432807966
gnomAD v2:
19-39076607-C-T
gnomAD v3:
19-38585967-C-T
gnomAD v4:
19-38585967-C-T
COSMIC:
COSM6439951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585967C>T , CM000681.2:g.38585967C>T | GRCh38 |
| NC_000019.9:g.39076607C>T , CM000681.1:g.39076607C>T | GRCh37 |
| NC_000019.8:g.43768447C>T | NCBI36 |
| NG_008866.1:g.157268C>T , LRG_766:g.157268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1769C>T | ||
| ENST00000688602.1:c.3166C>T | ||
| ENST00000689936.1:c.3138C>T | ||
| ENST00000692547.1:n.226C>T | ||
| ENST00000359596.8:c.14833C>T MANE Select | ENSP00000352608.2:p.Arg4945Ter | |
| ENST00000355481.8:c.14818C>T | ENSP00000347667.3:p.Arg4940Ter | |
| ENST00000359596.7:c.14833C>T | ENSP00000352608.2:p.Arg4945Ter | |
| ENST00000360985.7:c.14815C>T | ENSP00000354254.4:p.Arg4939Ter | |
| NM_000540.2:c.14833C>T , LRG_766t1:c.14833C>T | NP_000531.2:p.Arg4945Ter | |
| NM_001042723.1:c.14818C>T | NP_001036188.1:p.Arg4940Ter | |
| XM_006723317.1:c.14815C>T | XP_006723380.1:p.Arg4939Ter | |
| XM_006723319.1:c.14800C>T | XP_006723382.1:p.Arg4934Ter | |
| XM_011527204.1:c.14830C>T | XP_011525506.1:p.Arg4944Ter | |
| XM_011527205.1:c.14746C>T | XP_011525507.1:p.Arg4916Ter | |
| XM_006723317.2:c.14815C>T | XP_006723380.1:p.Arg4939Ter | |
| XM_006723319.2:c.14800C>T | XP_006723382.1:p.Arg4934Ter | |
| XM_011527205.2:c.14746C>T | XP_011525507.1:p.Arg4916Ter | |
| NM_000540.3:c.14833C>T MANE Select | NP_000531.2:p.Arg4945Ter | |
| NM_001042723.2:c.14818C>T | NP_001036188.1:p.Arg4940Ter |