Linked Data
ClinVar Variation Id:
225385
ClinVar RCV Id:
RCV000490315
dbSNP Id:
rs113112630
ExAC:
2:26486348 G / A
gnomAD v2:
2-26486348-G-A
gnomAD v4:
2-26263480-G-A
PubMed:
PMID:21549624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26263480G>A , CM000664.2:g.26263480G>A | GRCh38 |
| NC_000002.11:g.26486348G>A , CM000664.1:g.26486348G>A | GRCh37 |
| NC_000002.10:g.26339852G>A | NCBI36 |
| NG_007294.1:g.23528G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317799.10:c.209+1G>A MANE Select | ENSP00000325136.5:n.209+1G>A | |
| ENST00000317799.9:c.209+1G>A | ENSP00000325136.5:n.209+1G>A | |
| ENST00000405867.7:c.209+1G>A | ENSP00000385411.3:n.209+1G>A | |
| ENST00000412805.5:c.209+1G>A | ENSP00000413103.1:n.209+1G>A | |
| ENST00000425035.5:c.209+1G>A | ENSP00000404633.1:n.209+1G>A | |
| ENST00000448743.5:c.209+1G>A | ENSP00000415300.1:n.209+1G>A | |
| ENST00000494615.1:n.1156+1G>A | ||
| ENST00000537713.5:c.209+1G>A | ENSP00000444295.1:n.209+1G>A | |
| ENST00000545822.2:c.143+1G>A | ENSP00000442665.1:n.143+1G>A | |
| NM_000183.2:c.209+1G>A | NP_000174.1:n.209+1G>A | |
| NM_001281512.1:c.209+1G>A | NP_001268441.1:n.209+1G>A | |
| NM_001281513.1:c.143+1G>A | NP_001268442.1:n.143+1G>A | |
| XM_011532803.1:c.209+1G>A | XP_011531105.1:n.209+1G>A | |
| XM_011532804.1:c.143+1G>A | XP_011531106.1:n.143+1G>A | |
| XM_024452830.1:c.179+1G>A | XP_024308598.1:n.179+1G>A | |
| XM_024452831.1:c.143+1G>A | XP_024308599.1:n.143+1G>A | |
| NM_000183.3:c.209+1G>A MANE Select | NP_000174.1:n.209+1G>A | |
| NM_001281513.2:c.143+1G>A | NP_001268442.1:n.143+1G>A | |
| NM_001281512.2:c.209+1G>A | NP_001268441.1:n.209+1G>A |