Linked Data
ClinVar Variation Id:
330784
dbSNP Id:
rs1800930
gnomAD v2:
2-113820530-A-G
gnomAD v3:
2-113062953-A-G
gnomAD v4:
2-113062953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062953A>G , CM000664.2:g.113062953A>G | GRCh38 |
| NC_000002.11:g.113820530A>G , CM000664.1:g.113820530A>G | GRCh37 |
| NC_000002.10:g.113537001A>G | NCBI36 |
| NG_031864.1:g.9316A>G , LRG_730:g.9316A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393200.7:c.*276A>G MANE Select | ENSP00000376896.2:n.*276A>G | |
| ENST00000346807.7:c.*276A>G | ENSP00000259212.3:n.*276A>G | |
| ENST00000393200.6:c.*276A>G | ENSP00000376896.2:n.*276A>G | |
| ENST00000514072.1:c.207+227A>G | ||
| NM_012275.2:c.*276A>G , LRG_730t2:c.*276A>G | NP_036407.1:n.*276A>G | |
| NM_173170.1:c.*276A>G , LRG_730t1:c.*276A>G | NP_775262.1:n.*276A>G | |
| NM_012275.3:c.*276A>G MANE Select | NP_036407.1:n.*276A>G |