Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35202590A>C , CM000669.2:g.35202590A>C | GRCh38 |
| NC_000007.13:g.35242202A>C , CM000669.1:g.35242202A>C | GRCh37 |
| NC_000007.12:g.35208727A>C | NCBI36 |
| NG_015805.1:g.56510T>G , LRG_755:g.56510T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408931.4:c.1184T>G MANE Select | ENSP00000386170.3:p.Met395Arg | |
| ENST00000408931.3:c.1184T>G | ENSP00000386170.3:p.Met395Arg | |
| NM_001077653.2:c.1184T>G , LRG_755t1:c.1184T>G MANE Select | NP_001071121.1:p.Met395Arg | |
| XM_017012456.1:c.587T>G | XP_016867945.1:p.Met196Arg |