Linked Data
ClinVar Variation Id:
1195375
ClinVar RCV Id:
RCV001558435
dbSNP Id:
rs11570092
gnomAD v2:
11-47359977-G-A
gnomAD v3:
11-47338426-G-A
gnomAD v4:
11-47338426-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47338426G>A , CM000673.2:g.47338426G>A | GRCh38 |
| NC_000011.9:g.47359977G>A , CM000673.1:g.47359977G>A | GRCh37 |
| NC_000011.8:g.47316553G>A | NCBI36 |
| NG_007667.1:g.19277C>T , LRG_386:g.19277C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2308+94C>T MANE Select | ENSP00000442795.1:n.2308+94C>T | |
| ENST00000256993.8:c.2308+94C>T | ENSP00000256993.5:n.2308+94C>T | |
| ENST00000399249.6:c.2308+94C>T | ENSP00000382193.2:n.2308+94C>T | |
| ENST00000544791.1:c.2308+94C>T | ENSP00000444259.1:n.2308+94C>T | |
| ENST00000545968.5:c.2308+94C>T | ENSP00000442795.1:n.2308+94C>T | |
| NM_000256.3:c.2308+94C>T , LRG_386t1:c.2308+94C>T MANE Select | NP_000247.2:n.2308+94C>T | |
| XM_011520117.1:c.2290+94C>T | XP_011518419.1:n.2290+94C>T | |
| XM_011520118.1:c.2227+94C>T | XP_011518420.1:n.2227+94C>T |