Linked Data
ClinVar Variation Id:
295380
ClinVar RCV Id:
RCV000362383
dbSNP Id:
rs886045940
gnomAD v2:
1-213071003-A-G
gnomAD v3:
1-212897661-A-G
gnomAD v4:
1-212897661-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212897661A>G , CM000663.2:g.212897661A>G | GRCh38 |
| NC_000001.10:g.213071003A>G , CM000663.1:g.213071003A>G | GRCh37 |
| NC_000001.9:g.211137626A>G | NCBI36 |
| NG_028131.1:g.44407A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366971.9:c.*2371A>G MANE Select | ENSP00000355938.4:n.*2371A>G | |
| ENST00000366971.8:c.*2371A>G | ENSP00000355938.4:n.*2371A>G | |
| NM_014053.3:c.*2371A>G | NP_054772.1:n.*2371A>G | |
| NM_014053.4:c.*2371A>G MANE Select | NP_054772.1:n.*2371A>G |