Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487464G>C , CM000665.2:g.196487464G>C | GRCh38 |
| NC_000003.11:g.196214335G>C , CM000665.1:g.196214335G>C | GRCh37 |
| NC_000003.10:g.197698732G>C | NCBI36 |
| NG_023425.1:g.21305C>G , LRG_185:g.21305C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.493C>G MANE Select | ENSP00000320898.3:p.Arg165Gly | |
| ENST00000437070.1:c.*65C>G | ENSP00000396712.1:n.*65C>G | |
| NM_152617.3:c.493C>G , LRG_185t1:c.493C>G | NP_689830.2:p.Arg165Gly | |
| NM_152617.4:c.493C>G MANE Select | NP_689830.2:p.Arg165Gly |