Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337480T>G , CM000673.2:g.47337480T>G | GRCh38 |
| NC_000011.9:g.47359031T>G , CM000673.1:g.47359031T>G | GRCh37 |
| NC_000011.8:g.47315607T>G | NCBI36 |
| NG_007667.1:g.20223A>C , LRG_386:g.20223A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2513A>C MANE Select | ENSP00000442795.1:p.Glu838Ala | |
| ENST00000256993.8:c.2513A>C | ENSP00000256993.5:p.Glu838Ala | |
| ENST00000399249.6:c.2513A>C | ENSP00000382193.2:p.Glu838Ala | |
| ENST00000544791.1:c.*18A>C | ENSP00000444259.1:n.*18A>C | |
| ENST00000545968.5:c.2513A>C | ENSP00000442795.1:p.Glu838Ala | |
| NM_000256.3:c.2513A>C , LRG_386t1:c.2513A>C MANE Select | NP_000247.2:p.Glu838Ala | |
| XM_011520117.1:c.2495A>C | XP_011518419.1:p.Glu832Ala | |
| XM_011520118.1:c.2432A>C | XP_011518420.1:p.Glu811Ala |