Linked Data
ClinVar Variation Id:
3231242
ClinVar RCV Id:
RCV004525313
dbSNP Id:
rs2138093559
MyVariant Identifiers:
chr13:g.48923119G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348983G>A , CM000675.2:g.48348983G>A | GRCh38 |
| NC_000013.10:g.48923119G>A , CM000675.1:g.48923119G>A | GRCh37 |
| NC_000013.9:g.47821120G>A | NCBI36 |
| NG_009009.1:g.50237G>A , LRG_517:g.50237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.567G>A MANE Select | ENSP00000267163.4:p.Leu189= | |
| ENST00000650461.1:c.567G>A | ENSP00000497193.1:p.Leu189= | |
| ENST00000267163.4:c.567G>A | ENSP00000267163.4:p.Leu189= | |
| ENST00000467505.5:c.138-11034G>A | ENSP00000434702.1:n.138-11034G>A | |
| ENST00000525036.1:n.729G>A | ||
| NM_000321.2:c.567G>A , LRG_517t1:c.567G>A | NP_000312.2:p.Leu189= | |
| XM_011535171.1:c.306G>A | XP_011533473.1:p.Leu102= | |
| XM_011535171.2:c.306G>A | XP_011533473.1:p.Leu102= | |
| NM_000321.3:c.567G>A MANE Select | NP_000312.2:p.Leu189= |