Linked Data
ClinVar Variation Id:
133021
ClinVar RCV Id:
RCV000119441
RCV000148797
RCV001331321
RCV002251988
RCV000655533
RCV000764196
RCV003993810
RCV003398723
dbSNP Id:
rs147136339
ExAC:
19:39034191 A / G
gnomAD v2:
19-39034191-A-G
gnomAD v3:
19-38543551-A-G
gnomAD v4:
19-38543551-A-G
COSMIC:
COSM1581625
ERepo:
CA023938/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543551A>G , CM000681.2:g.38543551A>G | GRCh38 |
| NC_000019.9:g.39034191A>G , CM000681.1:g.39034191A>G | GRCh37 |
| NC_000019.8:g.43726031A>G | NCBI36 |
| NG_008866.1:g.114852A>G , LRG_766:g.114852A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.208A>G | ||
| ENST00000689936.1:c.190A>G | ||
| ENST00000359596.8:c.11798A>G MANE Select | ENSP00000352608.2:p.Tyr3933Cys | |
| ENST00000355481.8:c.11783A>G | ENSP00000347667.3:p.Tyr3928Cys | |
| ENST00000359596.7:c.11798A>G | ENSP00000352608.2:p.Tyr3933Cys | |
| ENST00000360985.7:c.11780A>G | ENSP00000354254.4:p.Tyr3927Cys | |
| ENST00000593322.1:c.407A>G | ||
| ENST00000594335.5:c.5167A>G | ||
| NM_000540.2:c.11798A>G , LRG_766t1:c.11798A>G | NP_000531.2:p.Tyr3933Cys | |
| NM_001042723.1:c.11783A>G | NP_001036188.1:p.Tyr3928Cys | |
| XM_006723317.1:c.11780A>G | XP_006723380.1:p.Tyr3927Cys | |
| XM_006723319.1:c.11765A>G | XP_006723382.1:p.Tyr3922Cys | |
| XM_011527204.1:c.11795A>G | XP_011525506.1:p.Tyr3932Cys | |
| XM_011527205.1:c.11798A>G | XP_011525507.1:p.Tyr3933Cys | |
| XM_006723317.2:c.11780A>G | XP_006723380.1:p.Tyr3927Cys | |
| XM_006723319.2:c.11765A>G | XP_006723382.1:p.Tyr3922Cys | |
| XM_011527205.2:c.11798A>G | XP_011525507.1:p.Tyr3933Cys | |
| NM_000540.3:c.11798A>G MANE Select | NP_000531.2:p.Tyr3933Cys | |
| NM_001042723.2:c.11783A>G | NP_001036188.1:p.Tyr3928Cys |