Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154727C>G , CM000668.2:g.3154727C>G | GRCh38 |
| NC_000006.11:g.3154961C>G , CM000668.1:g.3154961C>G | GRCh37 |
| NC_000006.10:g.3099960C>G | NCBI36 |
| NG_042223.1:g.7823G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.474G>C MANE Select | ENSP00000369703.2:p.Glu158Asp | |
| ENST00000679400.1:n.530G>C | ||
| ENST00000679907.1:n.862G>C | ||
| ENST00000680036.1:n.1256G>C | ||
| ENST00000680967.1:n.1564G>C | ||
| ENST00000333628.3:c.474G>C | ENSP00000369703.2:p.Glu158Asp | |
| ENST00000489942.1:n.669G>C | ||
| NM_001069.2:c.474G>C | NP_001060.1:p.Glu158Asp | |
| NM_001310315.1:c.219G>C | NP_001297244.1:p.Glu73Asp | |
| NM_001069.3:c.474G>C MANE Select | NP_001060.1:p.Glu158Asp | |
| NM_001310315.2:c.219G>C | NP_001297244.1:p.Glu73Asp |