Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942971A>T , CM000678.2:g.67942971A>T | GRCh38 |
| NC_000016.9:g.67976874A>T , CM000678.1:g.67976874A>T | GRCh37 |
| NC_000016.8:g.66534375A>T | NCBI36 |
| NG_009778.1:g.6142T>A | |
| NG_033098.1:g.30724T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.317T>A MANE Select | ENSP00000264005.5:p.Val106Asp | |
| ENST00000264005.9:c.317T>A | ENSP00000264005.5:p.Val106Asp | |
| ENST00000570369.5:c.45T>A | ||
| ENST00000570980.1:c.101T>A | ENSP00000464651.1:p.Val34Asp | |
| ENST00000575277.1:n.95T>A | ||
| ENST00000575467.5:c.*12T>A | ENSP00000460653.1:n.*12T>A | |
| NM_000229.1:c.317T>A | NP_000220.1:p.Val106Asp | |
| NM_000229.2:c.317T>A MANE Select | NP_000220.1:p.Val106Asp |