Linked Data
ClinVar Variation Id:
133032
dbSNP Id:
rs144685735
ExAC:
19:39038899 C / T
gnomAD v2:
19-39038899-C-T
gnomAD v3:
19-38548259-C-T
gnomAD v4:
19-38548259-C-T
ERepo:
CA023969/MONDO:0007783/012
PubMed:
PMID:16835904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38548259C>T , CM000681.2:g.38548259C>T | GRCh38 |
| NC_000019.9:g.39038899C>T , CM000681.1:g.39038899C>T | GRCh37 |
| NC_000019.8:g.43730739C>T | NCBI36 |
| NG_008866.1:g.119560C>T , LRG_766:g.119560C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.531C>T | ||
| ENST00000689936.1:c.513C>T | ||
| ENST00000359596.8:c.12121C>T MANE Select | ENSP00000352608.2:p.Arg4041Trp | |
| ENST00000355481.8:c.12106C>T | ENSP00000347667.3:p.Arg4036Trp | |
| ENST00000359596.7:c.12121C>T | ENSP00000352608.2:p.Arg4041Trp | |
| ENST00000360985.7:c.12103C>T | ENSP00000354254.4:p.Arg4035Trp | |
| ENST00000593322.1:c.730C>T | ||
| ENST00000594335.5:c.5490C>T | ||
| NM_000540.2:c.12121C>T , LRG_766t1:c.12121C>T | NP_000531.2:p.Arg4041Trp | |
| NM_001042723.1:c.12106C>T | NP_001036188.1:p.Arg4036Trp | |
| XM_006723317.1:c.12103C>T | XP_006723380.1:p.Arg4035Trp | |
| XM_006723319.1:c.12088C>T | XP_006723382.1:p.Arg4030Trp | |
| XM_011527204.1:c.12118C>T | XP_011525506.1:p.Arg4040Trp | |
| XM_011527205.1:c.12121C>T | XP_011525507.1:p.Arg4041Trp | |
| XM_006723317.2:c.12103C>T | XP_006723380.1:p.Arg4035Trp | |
| XM_006723319.2:c.12088C>T | XP_006723382.1:p.Arg4030Trp | |
| XM_011527205.2:c.12121C>T | XP_011525507.1:p.Arg4041Trp | |
| NM_000540.3:c.12121C>T MANE Select | NP_000531.2:p.Arg4041Trp | |
| NM_001042723.2:c.12106C>T | NP_001036188.1:p.Arg4036Trp |