Linked Data
ClinVar Variation Id:
410932
ClinVar RCV Id:
RCV000465314
dbSNP Id:
rs9535023
gnomAD v4:
13-48380039-A-G
COSMIC:
COSN20089344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380039A>G , CM000675.2:g.48380039A>G | GRCh38 |
| NC_000013.10:g.48954175A>G , CM000675.1:g.48954175A>G | GRCh37 |
| NC_000013.9:g.47852176A>G | NCBI36 |
| NG_009009.1:g.81293A>G , LRG_517:g.81293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1390-14A>G MANE Select | ENSP00000267163.4:n.1390-14A>G | |
| ENST00000650461.1:c.1390-14A>G | ENSP00000497193.1:n.1390-14A>G | |
| ENST00000267163.4:c.1390-14A>G | ENSP00000267163.4:n.1390-14A>G | |
| NM_000321.2:c.1390-14A>G , LRG_517t1:c.1390-14A>G | NP_000312.2:n.1390-14A>G | |
| XM_011535171.1:c.1129-14A>G | XP_011533473.1:n.1129-14A>G | |
| XM_011535171.2:c.1129-14A>G | XP_011533473.1:n.1129-14A>G | |
| NM_000321.3:c.1390-14A>G MANE Select | NP_000312.2:n.1390-14A>G |