Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.109304496A>G , CM000665.2:g.109304496A>G | GRCh38 |
| NC_000003.11:g.109023343A>G , CM000665.1:g.109023343A>G | GRCh37 |
| NC_000003.10:g.110506033A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138815.4:c.833T>C MANE Select | NP_620170.3:p.Leu278Ser |
| ENST00000478945.1:c.833T>C MANE Select | ENSP00000417710.1:p.Leu278Ser |
| NM_138815.3:c.833T>C | NP_620170.3:p.Leu278Ser |
| XM_006713509.1:c.863T>C | XP_006713572.1:p.Leu288Ser |
| XM_011512443.1:c.860T>C | XP_011510745.1:p.Leu287Ser |
| XM_011512444.1:c.833T>C | XP_011510746.1:p.Leu278Ser |
| XM_011512444.3:c.833T>C | XP_011510746.1:p.Leu278Ser |
| XM_011512445.1:c.833T>C | XP_011510747.1:p.Leu278Ser |
| XM_011512445.2:c.833T>C | XP_011510747.1:p.Leu278Ser |