Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576081T>A , CM000670.2:g.86576081T>A | GRCh38 |
| NC_000008.10:g.87588309T>A , CM000670.1:g.87588309T>A | GRCh37 |
| NC_000008.9:g.87657425T>A | NCBI36 |
| NG_016980.1:g.172595A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2153A>T MANE Select | ENSP00000316605.5:p.Asp718Val | |
| ENST00000681546.1:n.1973A>T | ||
| ENST00000681746.1:c.*564A>T | ENSP00000505959.1:n.*564A>T | |
| ENST00000320005.5:c.2153A>T | ENSP00000316605.5:p.Asp718Val | |
| ENST00000517327.5:c.276+2608A>T | ENSP00000428329.1:n.276+2608A>T | |
| NM_019098.4:c.2153A>T | NP_061971.3:p.Asp718Val | |
| XM_011517138.1:c.1739A>T | XP_011515440.1:p.Asp580Val | |
| XM_011517138.2:c.1739A>T | XP_011515440.1:p.Asp580Val | |
| NM_019098.5:c.2153A>T MANE Select | NP_061971.3:p.Asp718Val |