Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005874A>C , CM000676.2:g.75005874A>C | GRCh38 |
| NC_000014.8:g.75472577A>C , CM000676.1:g.75472577A>C | GRCh37 |
| NC_000014.7:g.74542330A>C | NCBI36 |
| NG_013333.1:g.7966A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.606A>C MANE Select | ENSP00000266126.5:p.Glu202Asp | |
| ENST00000266126.9:c.606A>C | ENSP00000266126.5:p.Glu202Asp | |
| ENST00000553401.5:c.604A>C | ENSP00000451681.1:n.604A>C | |
| ENST00000556028.5:c.598-23A>C | ENSP00000452311.1:n.598-23A>C | |
| NM_014239.3:c.606A>C | NP_055054.1:p.Glu202Asp | |
| NM_014239.4:c.606A>C MANE Select | NP_055054.1:p.Glu202Asp |