Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477500T>A , CM000667.2:g.154477500T>A | GRCh38 |
| NC_000005.9:g.153857060T>A , CM000667.1:g.153857060T>A | GRCh37 |
| NC_000005.8:g.153837253T>A | NCBI36 |
| NG_052889.1:g.5765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231121.3:c.509A>T MANE Select | ENSP00000231121.2:p.Asp170Val | |
| ENST00000231121.2:c.509A>T | ENSP00000231121.2:p.Asp170Val | |
| NM_004821.2:c.509A>T | NP_004812.1:p.Asp170Val | |
| XM_005268531.1:c.509A>T | XP_005268588.1:p.Asp170Val | |
| NM_004821.3:c.509A>T MANE Select | NP_004812.1:p.Asp170Val |