Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477497C>G , CM000667.2:g.154477497C>G | GRCh38 |
| NC_000005.9:g.153857057C>G , CM000667.1:g.153857057C>G | GRCh37 |
| NC_000005.8:g.153837250C>G | NCBI36 |
| NG_052889.1:g.5768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231121.3:c.512G>C MANE Select | ENSP00000231121.2:p.Gly171Ala | |
| ENST00000231121.2:c.512G>C | ENSP00000231121.2:p.Gly171Ala | |
| NM_004821.2:c.512G>C | NP_004812.1:p.Gly171Ala | |
| XM_005268531.1:c.512G>C | XP_005268588.1:p.Gly171Ala | |
| NM_004821.3:c.512G>C MANE Select | NP_004812.1:p.Gly171Ala |