Linked Data
ClinVar Variation Id:
133060
dbSNP Id:
rs193922867
gnomAD v3:
19-38577954-C-T
gnomAD v4:
19-38577954-C-T
ERepo:
CA024116/MONDO:0018493/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38577954C>T , CM000681.2:g.38577954C>T | GRCh38 |
| NC_000019.9:g.39068594C>T , CM000681.1:g.39068594C>T | GRCh37 |
| NC_000019.8:g.43760434C>T | NCBI36 |
| NG_008866.1:g.149255C>T , LRG_766:g.149255C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1145C>T | ||
| ENST00000688602.1:c.2542C>T | ||
| ENST00000689936.1:c.2514C>T | ||
| ENST00000359596.8:c.14209C>T MANE Select | ENSP00000352608.2:p.Arg4737Trp | |
| ENST00000355481.8:c.14194C>T | ENSP00000347667.3:p.Arg4732Trp | |
| ENST00000359596.7:c.14209C>T | ENSP00000352608.2:p.Arg4737Trp | |
| ENST00000360985.7:c.14191C>T | ENSP00000354254.4:p.Arg4731Trp | |
| NM_000540.2:c.14209C>T , LRG_766t1:c.14209C>T | NP_000531.2:p.Arg4737Trp | |
| NM_001042723.1:c.14194C>T | NP_001036188.1:p.Arg4732Trp | |
| XM_006723317.1:c.14191C>T | XP_006723380.1:p.Arg4731Trp | |
| XM_006723319.1:c.14176C>T | XP_006723382.1:p.Arg4726Trp | |
| XM_011527204.1:c.14206C>T | XP_011525506.1:p.Arg4736Trp | |
| XM_011527205.1:c.14122C>T | XP_011525507.1:p.Arg4708Trp | |
| XM_006723317.2:c.14191C>T | XP_006723380.1:p.Arg4731Trp | |
| XM_006723319.2:c.14176C>T | XP_006723382.1:p.Arg4726Trp | |
| XM_011527205.2:c.14122C>T | XP_011525507.1:p.Arg4708Trp | |
| NM_000540.3:c.14209C>T MANE Select | NP_000531.2:p.Arg4737Trp | |
| NM_001042723.2:c.14194C>T | NP_001036188.1:p.Arg4732Trp |