Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150848350C>A , CM000667.2:g.150848350C>A | GRCh38 |
| NC_000005.9:g.150227912C>A , CM000667.1:g.150227912C>A | GRCh37 |
| NC_000005.8:g.150208105C>A | NCBI36 |
| NG_027809.1:g.6828C>A | |
| NG_027809.2:g.6828C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000522154.2:c.227C>A MANE Select | ENSP00000428220.1:p.Ala76Asp | |
| ENST00000522154.1:c.227C>A | ENSP00000428220.1:p.Ala76Asp | |
| NM_001145805.1:c.227C>A | NP_001139277.1:p.Ala76Asp | |
| XM_011537641.1:c.227C>A | XP_011535943.1:p.Ala76Asp | |
| NM_001346557.1:c.227C>A | NP_001333486.1:p.Ala76Asp | |
| NM_001346557.2:c.227C>A | NP_001333486.1:p.Ala76Asp | |
| NM_001145805.2:c.227C>A MANE Select | NP_001139277.1:p.Ala76Asp | |
| NR_170598.1:n.1342C>A |