Linked Data
dbSNP Id:
rs1732485362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487490T>C , CM000665.2:g.196487490T>C | GRCh38 |
| NC_000003.11:g.196214361T>C , CM000665.1:g.196214361T>C | GRCh37 |
| NC_000003.10:g.197698758T>C | NCBI36 |
| NG_023425.1:g.21279A>G , LRG_185:g.21279A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.467A>G MANE Select | ENSP00000320898.3:p.Glu156Gly | |
| ENST00000437070.1:c.*39A>G | ENSP00000396712.1:n.*39A>G | |
| NM_152617.3:c.467A>G , LRG_185t1:c.467A>G | NP_689830.2:p.Glu156Gly | |
| NM_152617.4:c.467A>G MANE Select | NP_689830.2:p.Glu156Gly |