Linked Data
ClinVar Variation Id:
126805
ClinVar RCV Id:
RCV000114697
dbSNP Id:
rs587778850
gnomAD v4:
13-48473391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48473391G>A , CM000675.2:g.48473391G>A | GRCh38 |
| NC_000013.10:g.49047527G>A , CM000675.1:g.49047527G>A | GRCh37 |
| NC_000013.9:g.47945528G>A | NCBI36 |
| NG_009009.1:g.174645G>A , LRG_517:g.174645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2520+1G>A MANE Select | ENSP00000267163.4:n.2520+1G>A | |
| ENST00000643064.1:c.194+91948G>A | ||
| ENST00000650461.1:c.2520+1G>A | ENSP00000497193.1:n.2520+1G>A | |
| ENST00000267163.4:c.2520+1G>A | ENSP00000267163.4:n.2520+1G>A | |
| NM_000321.2:c.2520+1G>A , LRG_517t1:c.2520+1G>A | NP_000312.2:n.2520+1G>A | |
| XM_011535171.1:c.2259+1G>A | XP_011533473.1:n.2259+1G>A | |
| XM_011535171.2:c.2259+1G>A | XP_011533473.1:n.2259+1G>A | |
| NM_000321.3:c.2520+1G>A MANE Select | NP_000312.2:n.2520+1G>A |