Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994506C>A , CM000674.2:g.71994506C>A | GRCh38 |
| NC_000012.11:g.72388286C>A , CM000674.1:g.72388286C>A | GRCh37 |
| NC_000012.10:g.70674553C>A | NCBI36 |
| NG_008279.1:g.60661C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1009C>A MANE Select | ENSP00000329093.3:p.Gln337Lys | |
| ENST00000333850.3:c.1009C>A | ENSP00000329093.3:p.Gln337Lys | |
| NM_173353.3:c.1009C>A | NP_775489.2:p.Gln337Lys | |
| XM_011537899.1:c.415C>A | XP_011536201.1:p.Gln139Lys | |
| NM_173353.4:c.1009C>A MANE Select | NP_775489.2:p.Gln337Lys |