Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154158853T>A , CM000685.2:g.154158853T>A | GRCh38 |
| NC_000023.10:g.153424328T>A , CM000685.1:g.153424328T>A | GRCh37 |
| NC_000023.9:g.153077522T>A | NCBI36 |
| NG_009105.2:g.19603T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369951.9:c.1022T>A MANE Select | ENSP00000358967.4:p.Val341Asp | |
| ENST00000369951.8:c.1022T>A | ENSP00000358967.4:p.Val341Asp | |
| ENST00000442922.1:c.422T>A | ENSP00000402493.1:p.Val141Asp | |
| NM_020061.5:c.1022T>A | NP_064445.2:p.Val341Asp | |
| NM_020061.6:c.1022T>A MANE Select | NP_064445.2:p.Val341Asp |