Linked Data
ClinVar Variation Id:
329088
ClinVar RCV Id:
RCV000295514
RCV000352587
RCV000372340
RCV000387418
RCV000624697
RCV000721736
RCV001085870
dbSNP Id:
rs2915960
ExAC:
19:39003004 C / T
gnomAD v2:
19-39003004-C-T
gnomAD v3:
19-38512364-C-T
gnomAD v4:
19-38512364-C-T
PubMed:
PMID:4149045
PMID:8661021
PMID:9199552
PMID:16163667
PMID:16380615
PMID:16917943
PMID:18765655
PMID:20583297
PMID:20839240
PMID:23394784
PMID:23553484
PMID:23919265
ERepo:
CA073512/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38512364C>T , CM000681.2:g.38512364C>T | GRCh38 |
| NC_000019.9:g.39003004C>T , CM000681.1:g.39003004C>T | GRCh37 |
| NC_000019.8:g.43694844C>T | NCBI36 |
| NG_008866.1:g.83665C>T , LRG_766:g.83665C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.9292C>T | ENSP00000471601.2:n.9292C>T | |
| ENST00000359596.8:c.9353C>T MANE Select | ENSP00000352608.2:p.Ala3118Val | |
| ENST00000355481.8:c.9353C>T | ENSP00000347667.3:p.Ala3118Val | |
| ENST00000359596.7:c.9353C>T | ENSP00000352608.2:p.Ala3118Val | |
| ENST00000360985.7:c.9350C>T | ENSP00000354254.4:p.Ala3117Val | |
| ENST00000594335.5:c.2755C>T | ||
| ENST00000599547.5:c.160C>T | ||
| NM_000540.2:c.9353C>T , LRG_766t1:c.9353C>T | NP_000531.2:p.Ala3118Val | |
| NM_001042723.1:c.9353C>T | NP_001036188.1:p.Ala3118Val | |
| XM_006723317.1:c.9353C>T | XP_006723380.1:p.Ala3118Val | |
| XM_006723319.1:c.9353C>T | XP_006723382.1:p.Ala3118Val | |
| XM_011527204.1:c.9350C>T | XP_011525506.1:p.Ala3117Val | |
| XM_011527205.1:c.9353C>T | XP_011525507.1:p.Ala3118Val | |
| XM_006723317.2:c.9353C>T | XP_006723380.1:p.Ala3118Val | |
| XM_006723319.2:c.9353C>T | XP_006723382.1:p.Ala3118Val | |
| XM_011527205.2:c.9353C>T | XP_011525507.1:p.Ala3118Val | |
| XR_001753735.1:n.9386C>T | ||
| NM_000540.3:c.9353C>T MANE Select | NP_000531.2:p.Ala3118Val | |
| NM_001042723.2:c.9353C>T | NP_001036188.1:p.Ala3118Val |