Linked Data
ClinVar Variation Id:
5131
dbSNP Id:
rs104886461
ExAC:
19:7591645 A / G
gnomAD v2:
19-7591645-A-G
gnomAD v3:
19-7526759-A-G
gnomAD v4:
19-7526759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526759A>G , CM000681.2:g.7526759A>G | GRCh38 |
| NC_000019.9:g.7591645A>G , CM000681.1:g.7591645A>G | GRCh37 |
| NC_000019.8:g.7497645A>G | NCBI36 |
| NG_015806.1:g.9150A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.406-2A>G MANE Select | ENSP00000264079.5:n.406-2A>G | |
| ENST00000264079.10:c.406-2A>G | ENSP00000264079.5:n.406-2A>G | |
| ENST00000394321.9:n.486-2A>G | ||
| ENST00000596008.1:n.368-2A>G | ||
| ENST00000598406.1:n.227-2A>G | ||
| ENST00000601003.1:c.406-2A>G | ENSP00000469074.1:n.406-2A>G | |
| NM_020533.2:c.406-2A>G | NP_065394.1:n.406-2A>G | |
| NM_020533.3:c.406-2A>G MANE Select | NP_065394.1:n.406-2A>G |