Linked Data
ClinVar Variation Id:
643222
ClinVar RCV Id:
RCV000796882
dbSNP Id:
rs1593412272
gnomAD v4:
13-48304037-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304037T>A , CM000675.2:g.48304037T>A | GRCh38 |
| NC_000013.10:g.48878173T>A , CM000675.1:g.48878173T>A | GRCh37 |
| NC_000013.9:g.47776174T>A | NCBI36 |
| NG_009009.1:g.5291T>A , LRG_517:g.5291T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.125T>A MANE Select | ENSP00000267163.4:p.Leu42Gln | |
| ENST00000646097.1:c.125T>A | ENSP00000496556.1:p.Leu42Gln | |
| ENST00000650461.1:c.125T>A | ENSP00000497193.1:p.Leu42Gln | |
| ENST00000267163.4:c.125T>A | ENSP00000267163.4:p.Leu42Gln | |
| ENST00000467505.5:c.125T>A | ENSP00000434702.1:p.Leu42Gln | |
| ENST00000525036.1:n.287T>A | ||
| NM_000321.2:c.125T>A , LRG_517t1:c.125T>A | NP_000312.2:p.Leu42Gln | |
| NM_000321.3:c.125T>A MANE Select | NP_000312.2:p.Leu42Gln |