Linked Data
ClinVar Variation Id:
1272787
ClinVar RCV Id:
RCV001678610
dbSNP Id:
rs12363125
gnomAD v2:
11-113285916-C-T
gnomAD v3:
11-113415194-C-T
gnomAD v4:
11-113415194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113415194C>T , CM000673.2:g.113415194C>T | GRCh38 |
| NC_000011.9:g.113285916C>T , CM000673.1:g.113285916C>T | GRCh37 |
| NC_000011.8:g.112791126C>T | NCBI36 |
| NG_008841.1:g.65086G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.723+227G>A MANE Select | ENSP00000354859.3:n.723+227G>A | |
| ENST00000346454.7:c.723+227G>A | ENSP00000278597.5:n.723+227G>A | |
| ENST00000362072.7:c.723+227G>A | ENSP00000354859.3:n.723+227G>A | |
| ENST00000535984.1:n.442+227G>A | ||
| ENST00000538967.5:c.723+227G>A | ENSP00000438215.1:n.723+227G>A | |
| ENST00000540600.5:n.788+227G>A | ||
| ENST00000542968.5:c.723+227G>A | ENSP00000442172.1:n.723+227G>A | |
| ENST00000544518.5:c.720+227G>A | ENSP00000441068.1:n.720+227G>A | |
| NM_000795.3:c.723+227G>A | NP_000786.1:n.723+227G>A | |
| NM_016574.3:c.723+227G>A | NP_057658.2:n.723+227G>A | |
| XM_017017296.2:c.723+227G>A | XP_016872785.1:n.723+227G>A | |
| NM_000795.4:c.723+227G>A MANE Select | NP_000786.1:n.723+227G>A | |
| NM_016574.4:c.723+227G>A | NP_057658.2:n.723+227G>A |