Linked Data
dbSNP Id:
rs12749204
gnomAD v2:
1-29176213-A-G
gnomAD v3:
1-28849701-A-G
gnomAD v4:
1-28849701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28849701A>G , CM000663.2:g.28849701A>G | GRCh38 |
| NC_000001.10:g.29176213A>G , CM000663.1:g.29176213A>G | GRCh37 |
| NC_000001.9:g.29048800A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234961.7:c.228-9253A>G MANE Select | ENSP00000234961.2:n.228-9253A>G | |
| ENST00000234961.6:c.228-9253A>G | ENSP00000234961.2:n.228-9253A>G | |
| ENST00000621425.1:c.228-9253A>G | ENSP00000477970.1:n.228-9253A>G | |
| NM_000911.3:c.228-9253A>G | NP_000902.3:n.228-9253A>G | |
| NM_000911.4:c.228-9253A>G MANE Select | NP_000902.3:n.228-9253A>G |