Linked Data
dbSNP Id:
rs762195916
ExAC:
3:186336419 C / G
gnomAD v2:
3-186336419-C-G
gnomAD v4:
3-186618630-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618630C>G , CM000665.2:g.186618630C>G | GRCh38 |
| NC_000003.11:g.186336419C>G , CM000665.1:g.186336419C>G | GRCh37 |
| NC_000003.10:g.187819113C>G | NCBI36 |
| NG_011436.1:g.10570C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.668C>G MANE Select | ENSP00000393887.2:p.Ala223Gly | |
| ENST00000273784.5:c.671C>G | ENSP00000273784.5:p.Ala224Gly | |
| ENST00000411641.6:c.668C>G | ENSP00000393887.2:p.Ala223Gly | |
| NM_001622.2:c.668C>G | NP_001613.2:p.Ala223Gly | |
| NM_001354571.1:c.671C>G | NP_001341500.1:p.Ala224Gly | |
| NM_001354572.1:c.665C>G | NP_001341501.1:p.Ala222Gly | |
| NM_001354573.1:c.668C>G | NP_001341502.1:p.Ala223Gly | |
| NM_001622.3:c.668C>G | NP_001613.2:p.Ala223Gly | |
| NM_001622.4:c.668C>G MANE Select | NP_001613.2:p.Ala223Gly | |
| NM_001354571.2:c.671C>G | NP_001341500.1:p.Ala224Gly | |
| NM_001354572.2:c.665C>G | NP_001341501.1:p.Ala222Gly | |
| NM_001354573.2:c.668C>G | NP_001341502.1:p.Ala223Gly |