Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672426C>A , CM000672.2:g.119672426C>A | GRCh38 |
| NC_000010.10:g.121431938C>A , CM000672.1:g.121431938C>A | GRCh37 |
| NC_000010.9:g.121421928C>A | NCBI36 |
| NG_016125.1:g.26057C>A , LRG_742:g.26057C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.679C>A MANE Select | ENSP00000358081.4:p.Gln227Lys | |
| ENST00000369085.7:c.679C>A | ENSP00000358081.3:p.Gln227Lys | |
| ENST00000450186.1:c.505C>A | ENSP00000410036.1:p.Gln169Lys | |
| NM_004281.3:c.679C>A , LRG_742t1:c.679C>A | NP_004272.2:p.Gln227Lys | |
| XM_005270287.1:c.679C>A | XP_005270344.1:p.Gln227Lys | |
| XM_005270287.2:c.679C>A | XP_005270344.1:p.Gln227Lys | |
| NM_004281.4:c.679C>A MANE Select | NP_004272.2:p.Gln227Lys |