Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981196A>C , CM000672.2:g.94981196A>C | GRCh38 |
| NC_000010.10:g.96740953A>C , CM000672.1:g.96740953A>C | GRCh37 |
| NC_000010.9:g.96730943A>C | NCBI36 |
| NG_008385.1:g.47539A>C | |
| NG_008385.2:g.48039A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.975A>C MANE Select | ENSP00000260682.6:p.Glu325Asp | |
| ENST00000643112.1:c.833A>C | ENSP00000496202.1:p.Lys278Thr | |
| ENST00000260682.6:c.975A>C | ENSP00000260682.6:p.Glu325Asp | |
| NM_000771.3:c.975A>C | NP_000762.2:p.Glu325Asp | |
| NM_000771.4:c.975A>C MANE Select | NP_000762.2:p.Glu325Asp |