Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716825A>T , CM000667.2:g.14716825A>T | GRCh38 |
| NC_000005.9:g.14716934A>T , CM000667.1:g.14716934A>T | GRCh37 |
| NC_000005.8:g.14769934A>T | NCBI36 |
| NG_008273.1:g.159954T>A | |
| NG_008273.2:g.159961T>A | |
| NG_051625.1:g.61032A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1022T>A MANE Select | ENSP00000284268.6:p.Val341Glu | |
| ENST00000284268.6:c.1022T>A | ENSP00000284268.6:p.Val341Glu | |
| ENST00000502585.1:n.264T>A | ||
| NM_054027.4:c.1022T>A | NP_473368.1:p.Val341Glu | |
| NM_054027.5:c.1022T>A | NP_473368.1:p.Val341Glu | |
| XM_017009644.2:c.938T>A | XP_016865133.1:p.Val313Glu | |
| NM_054027.6:c.1022T>A MANE Select | NP_473368.1:p.Val341Glu |