Linked Data
ClinVar Variation Id:
1057310
ClinVar RCV Id:
RCV001366265
dbSNP Id:
rs2138093406
gnomAD v4:
13-48348952-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348952A>G , CM000675.2:g.48348952A>G | GRCh38 |
| NC_000013.10:g.48923088A>G , CM000675.1:g.48923088A>G | GRCh37 |
| NC_000013.9:g.47821089A>G | NCBI36 |
| NG_009009.1:g.50206A>G , LRG_517:g.50206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.540-4A>G MANE Select | ENSP00000267163.4:n.540-4A>G | |
| ENST00000650461.1:c.540-4A>G | ENSP00000497193.1:n.540-4A>G | |
| ENST00000267163.4:c.540-4A>G | ENSP00000267163.4:n.540-4A>G | |
| ENST00000467505.5:c.138-11065A>G | ENSP00000434702.1:n.138-11065A>G | |
| ENST00000525036.1:n.702-4A>G | ||
| NM_000321.2:c.540-4A>G , LRG_517t1:c.540-4A>G | NP_000312.2:n.540-4A>G | |
| XM_011535171.1:c.279-4A>G | XP_011533473.1:n.279-4A>G | |
| XM_011535171.2:c.279-4A>G | XP_011533473.1:n.279-4A>G | |
| NM_000321.3:c.540-4A>G MANE Select | NP_000312.2:n.540-4A>G |