Linked Data
ClinVar Variation Id:
134098
ClinVar RCV Id:
RCV000120770
RCV001292799
RCV001329858
RCV000893772
RCV003153388
RCV001136196
RCV002258797
RCV004542872
dbSNP Id:
rs147972150
ExAC:
19:45873449 T / C
gnomAD v2:
19-45873449-T-C
gnomAD v3:
19-45370191-T-C
gnomAD v4:
19-45370191-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45370191T>C , CM000681.2:g.45370191T>C | GRCh38 |
| NC_000019.9:g.45873449T>C , CM000681.1:g.45873449T>C | GRCh37 |
| NC_000019.8:g.50565289T>C | NCBI36 |
| NG_007067.2:g.5397A>G , LRG_461:g.5397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.47A>G | ENSP00000375808.4:p.Tyr16Cys | |
| ENST00000682414.1:c.47A>G | ENSP00000507019.1:p.Tyr16Cys | |
| ENST00000682508.1:n.57+345A>G | ||
| ENST00000684218.1:c.47A>G | ENSP00000507804.1:p.Tyr16Cys | |
| ENST00000684407.1:c.-19+345A>G | ENSP00000507775.1:n.-19+345A>G | |
| ENST00000684458.1:c.47A>G | ENSP00000508260.1:p.Tyr16Cys | |
| ENST00000391945.10:c.47A>G MANE Select | ENSP00000375809.4:p.Tyr16Cys | |
| ENST00000586131.6:c.-26A>G | ENSP00000464887.1:n.-26A>G | |
| ENST00000646507.1:n.67A>G | ||
| ENST00000391941.6:c.-26A>G | ENSP00000375805.2:n.-26A>G | |
| ENST00000391944.7:c.47A>G | ENSP00000375808.3:p.Tyr16Cys | |
| ENST00000391945.8:c.47A>G | ENSP00000375809.3:p.Tyr16Cys | |
| ENST00000485403.6:c.-26A>G | ENSP00000431229.2:n.-26A>G | |
| ENST00000586131.5:c.-26A>G | ENSP00000464887.1:n.-26A>G | |
| ENST00000586441.1:n.20+345A>G | ||
| ENST00000586737.5:n.20+345A>G | ||
| ENST00000586856.1:c.-26A>G | ENSP00000466998.1:n.-26A>G | |
| ENST00000591309.5:c.47A>G | ENSP00000465207.1:p.Tyr16Cys | |
| NM_000400.3:c.47A>G , LRG_461t1:c.47A>G | NP_000391.1:p.Tyr16Cys | |
| NM_001130867.1:c.-26A>G | NP_001124339.1:n.-26A>G | |
| XM_011526611.1:c.47A>G | XP_011524913.1:p.Tyr16Cys | |
| XR_935763.1:n.94A>G | ||
| XM_011526611.2:c.47A>G | XP_011524913.1:p.Tyr16Cys | |
| XM_017026467.1:c.-19+345A>G | XP_016881956.1:n.-19+345A>G | |
| XR_001753633.2:n.94A>G | ||
| XR_001753634.2:n.94A>G | ||
| NM_000400.4:c.47A>G MANE Select | NP_000391.1:p.Tyr16Cys | |
| NM_001130867.2:c.-26A>G | NP_001124339.1:n.-26A>G |