Linked Data
dbSNP Id:
rs764896030
ExAC:
3:196214338 T / C
gnomAD v2:
3-196214338-T-C
gnomAD v4:
3-196487467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487467T>C , CM000665.2:g.196487467T>C | GRCh38 |
| NC_000003.11:g.196214338T>C , CM000665.1:g.196214338T>C | GRCh37 |
| NC_000003.10:g.197698735T>C | NCBI36 |
| NG_023425.1:g.21302A>G , LRG_185:g.21302A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.490A>G MANE Select | ENSP00000320898.3:p.Arg164Gly | |
| ENST00000437070.1:c.*62A>G | ENSP00000396712.1:n.*62A>G | |
| NM_152617.3:c.490A>G , LRG_185t1:c.490A>G | NP_689830.2:p.Arg164Gly | |
| NM_152617.4:c.490A>G MANE Select | NP_689830.2:p.Arg164Gly |