Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983380A= , CM000678.2:g.56983380A= | GRCh38 |
| NC_000016.9:g.57017292A= , CM000678.1:g.57017292A= | GRCh37 |
| NC_000016.8:g.55574793A= | NCBI36 |
| NG_008952.1:g.26458A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.1376A= MANE Select | ENSP00000200676.3:p.Asp459= | |
| ENST00000650358.1:n.1774A= | ||
| ENST00000200676.7:c.1376A= | ENSP00000200676.3:p.Asp459= | |
| ENST00000379780.6:c.1196A= | ENSP00000369106.2:p.Asp399= | |
| ENST00000566128.1:c.1181A= | ENSP00000456276.1:p.Asp394= | |
| NM_000078.2:c.1376A= | NP_000069.2:p.Asp459= | |
| NM_001286085.1:c.1196A= | NP_001273014.1:p.Asp399= | |
| NM_000078.3:c.1376A= MANE Select | NP_000069.2:p.Asp459= | |
| NM_001286085.2:c.1196A= | NP_001273014.1:p.Asp399= |