Linked Data
ClinVar Variation Id:
39867
ClinVar RCV Id:
RCV000033094
dbSNP Id:
rs869320738
gnomAD v2:
11-823588-G-T
gnomAD v4:
11-823588-G-T
PubMed:
PMID:22832386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.823588G>T , CM000673.2:g.823588G>T | GRCh38 |
| NC_000011.9:g.823588G>T , CM000673.1:g.823588G>T | GRCh37 |
| NC_000011.8:g.813588G>T | NCBI36 |
| NG_023394.1:g.9688G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.757+1G>T MANE Select | ENSP00000337701.4:n.757+1G>T | |
| ENST00000336615.8:c.757+1G>T | ENSP00000337701.4:n.757+1G>T | |
| ENST00000525250.5:n.1364G>T | ||
| ENST00000529255.1:n.45+1G>T | ||
| ENST00000617551.1:c.-493G>T | ENSP00000481602.1:n.-493G>T | |
| NM_020376.3:c.757+1G>T | NP_065109.1:n.757+1G>T | |
| XM_006718265.2:c.757+1G>T | XP_006718328.1:n.757+1G>T | |
| XM_006718266.2:c.757+1G>T | XP_006718329.1:n.757+1G>T | |
| XM_006718265.3:c.757+1G>T | XP_006718328.1:n.757+1G>T | |
| XM_006718266.3:c.757+1G>T | XP_006718329.1:n.757+1G>T | |
| XM_017018028.1:c.757+1G>T | XP_016873517.1:n.757+1G>T | |
| XM_024448618.1:c.757+1G>T | XP_024304386.1:n.757+1G>T | |
| NM_020376.4:c.757+1G>T MANE Select | NP_065109.1:n.757+1G>T |