Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563937G>T , CM000664.2:g.189563937G>T | GRCh38 |
| NC_000002.11:g.190428663G>T , CM000664.1:g.190428663G>T | GRCh37 |
| NC_000002.10:g.190136908G>T | NCBI36 |
| NG_009027.1:g.21875C>A , LRG_837:g.21875C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.1049C>A MANE Select | ENSP00000261024.3:p.Ala350Asp | |
| ENST00000261024.6:c.1049C>A | ENSP00000261024.2:p.Ala350Asp | |
| NM_014585.5:c.1049C>A , LRG_837t1:c.1049C>A | NP_055400.1:p.Ala350Asp | |
| XM_005246505.1:c.929C>A | XP_005246562.1:p.Ala310Asp | |
| XM_005246505.2:c.929C>A | XP_005246562.1:p.Ala310Asp | |
| XM_017003938.2:c.929C>A | XP_016859427.1:p.Ala310Asp | |
| NM_014585.6:c.1049C>A MANE Select | NP_055400.1:p.Ala350Asp |