Linked Data
ClinVar Variation Id:
523093
ClinVar RCV Id:
RCV000626312
dbSNP Id:
rs1554112524
gnomAD v3:
5-172914756-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172914756T>A , CM000667.2:g.172914756T>A | GRCh38 |
| NC_000005.9:g.172341759T>A , CM000667.1:g.172341759T>A | GRCh37 |
| NC_000005.8:g.172274365T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326654.7:c.293T>A | ENSP00000325127.3:p.Val98Glu | |
| ENST00000520326.6:n.353T>A | ||
| ENST00000684928.1:c.*172T>A | ENSP00000510698.1:n.*172T>A | |
| ENST00000685391.1:c.*30T>A | ENSP00000509294.1:n.*30T>A | |
| ENST00000686449.1:n.500T>A | ||
| ENST00000686615.1:c.293T>A | ENSP00000509559.1:p.Val98Glu | |
| ENST00000686955.1:c.293T>A | ENSP00000509772.1:p.Val98Glu | |
| ENST00000687702.1:c.293T>A | ENSP00000508714.1:p.Val98Glu | |
| ENST00000687901.1:c.17T>A | ENSP00000509817.1:p.Val6Glu | |
| ENST00000689975.1:c.293T>A | ENSP00000509397.1:p.Val98Glu | |
| ENST00000690799.1:c.*30T>A | ENSP00000510667.1:n.*30T>A | |
| ENST00000690977.1:n.373T>A | ||
| ENST00000691612.1:c.*114T>A | ENSP00000509840.1:n.*114T>A | |
| ENST00000692557.1:n.343T>A | ||
| ENST00000693299.1:c.17T>A | ENSP00000509429.1:p.Val6Glu | |
| ENST00000693572.1:c.294T>A | ||
| ENST00000393784.8:c.293T>A MANE Select | ENSP00000377374.3:p.Val98Glu | |
| ENST00000326654.6:c.158T>A | ENSP00000325127.2:p.Val53Glu | |
| ENST00000393784.7:c.293T>A | ENSP00000377374.3:p.Val98Glu | |
| ENST00000518247.5:c.158T>A | ENSP00000429501.1:p.Val53Glu | |
| ENST00000519567.5:n.259T>A | ||
| ENST00000519796.5:c.287T>A | ||
| ENST00000520326.5:n.372T>A | ||
| ENST00000520642.5:c.*30T>A | ENSP00000428064.1:n.*30T>A | |
| ENST00000523291.5:c.293T>A | ENSP00000427713.1:p.Val98Glu | |
| NM_001031711.2:c.293T>A | NP_001026881.1:p.Val98Glu | |
| XM_006714892.1:c.17T>A | XP_006714955.1:p.Val6Glu | |
| XM_011534597.1:c.365T>A | XP_011532899.1:p.Val122Glu | |
| XM_011534598.1:c.293T>A | XP_011532900.1:p.Val98Glu | |
| XM_011534599.1:c.365T>A | XP_011532901.1:p.Val122Glu | |
| XM_011534600.1:c.365T>A | XP_011532902.1:p.Val122Glu | |
| XM_011534598.3:c.293T>A | XP_011532900.1:p.Val98Glu | |
| XM_017009654.1:c.365T>A | XP_016865143.1:p.Val122Glu | |
| XM_017009655.1:c.365T>A | XP_016865144.1:p.Val122Glu | |
| XM_024446135.1:c.17T>A | XP_024301903.1:p.Val6Glu | |
| XR_001742159.2:n.320T>A | ||
| NM_001031711.3:c.293T>A MANE Select | NP_001026881.1:p.Val98Glu |