Linked Data
ClinVar Variation Id:
1120228
dbSNP Id:
rs759500310
ExAC:
19:39062902 T / C
gnomAD v2:
19-39062902-T-C
gnomAD v3:
19-38572262-T-C
gnomAD v4:
19-38572262-T-C
PubMed:
PMID:19191333
ERepo:
CA060685/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572262T>C , CM000681.2:g.38572262T>C | GRCh38 |
| NC_000019.9:g.39062902T>C , CM000681.1:g.39062902T>C | GRCh37 |
| NC_000019.8:g.43754742T>C | NCBI36 |
| NG_008866.1:g.143563T>C , LRG_766:g.143563T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.926T>C | ||
| ENST00000688602.1:c.2323T>C | ||
| ENST00000689936.1:c.2295T>C | ||
| ENST00000359596.8:c.13990T>C MANE Select | ENSP00000352608.2:p.Cys4664Arg | |
| ENST00000355481.8:c.13975T>C | ENSP00000347667.3:p.Cys4659Arg | |
| ENST00000359596.7:c.13990T>C | ENSP00000352608.2:p.Cys4664Arg | |
| ENST00000360985.7:c.13972T>C | ENSP00000354254.4:p.Cys4658Arg | |
| NM_000540.2:c.13990T>C , LRG_766t1:c.13990T>C | NP_000531.2:p.Cys4664Arg | |
| NM_001042723.1:c.13975T>C | NP_001036188.1:p.Cys4659Arg | |
| XM_006723317.1:c.13972T>C | XP_006723380.1:p.Cys4658Arg | |
| XM_006723319.1:c.13957T>C | XP_006723382.1:p.Cys4653Arg | |
| XM_011527204.1:c.13987T>C | XP_011525506.1:p.Cys4663Arg | |
| XM_011527205.1:c.13903T>C | XP_011525507.1:p.Cys4635Arg | |
| XM_006723317.2:c.13972T>C | XP_006723380.1:p.Cys4658Arg | |
| XM_006723319.2:c.13957T>C | XP_006723382.1:p.Cys4653Arg | |
| XM_011527205.2:c.13903T>C | XP_011525507.1:p.Cys4635Arg | |
| NM_000540.3:c.13990T>C MANE Select | NP_000531.2:p.Cys4664Arg | |
| NM_001042723.2:c.13975T>C | NP_001036188.1:p.Cys4659Arg |