Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26951963G>T , CM000663.2:g.26951963G>T | GRCh38 |
| NC_000001.10:g.27278454G>T , CM000663.1:g.27278454G>T | GRCh37 |
| NC_000001.9:g.27151041G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152365.3:c.418C>A MANE Select | NP_689578.2:p.Arg140Ser |
| ENST00000320567.6:c.418C>A MANE Select | ENSP00000319179.5:p.Arg140Ser |
| NM_152365.2:c.418C>A | NP_689578.2:p.Arg140Ser |
| ENST00000320567.5:c.418C>A | ENSP00000319179.5:p.Arg140Ser |
| ENST00000616918.1:c.300C>A | ENSP00000481107.1:p.Ile100= |
| XM_005245735.2:c.418C>A | XP_005245792.1:p.Arg140Ser |
| XM_011540622.1:c.418C>A | XP_011538924.1:p.Arg140Ser |
| XM_011540622.2:c.418C>A | XP_011538924.1:p.Arg140Ser |