Linked Data
ClinVar Variation Id:
527936
dbSNP Id:
rs1254191370
gnomAD v2:
13-48947631-A-G
gnomAD v3:
13-48373495-A-G
gnomAD v4:
13-48373495-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373495A>G , CM000675.2:g.48373495A>G | GRCh38 |
| NC_000013.10:g.48947631A>G , CM000675.1:g.48947631A>G | GRCh37 |
| NC_000013.9:g.47845632A>G | NCBI36 |
| NG_009009.1:g.74749A>G , LRG_517:g.74749A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1215+3A>G MANE Select | ENSP00000267163.4:n.1215+3A>G | |
| ENST00000650461.1:c.1215+3A>G | ENSP00000497193.1:n.1215+3A>G | |
| ENST00000267163.4:c.1215+3A>G | ENSP00000267163.4:n.1215+3A>G | |
| NM_000321.2:c.1215+3A>G , LRG_517t1:c.1215+3A>G | NP_000312.2:n.1215+3A>G | |
| XM_011535171.1:c.954+3A>G | XP_011533473.1:n.954+3A>G | |
| XM_011535171.2:c.954+3A>G | XP_011533473.1:n.954+3A>G | |
| XR_002957522.1:n.121+665T>C | ||
| NM_000321.3:c.1215+3A>G MANE Select | NP_000312.2:n.1215+3A>G |