Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944790T>G , CM000667.2:g.33944790T>G | GRCh38 |
| NC_000005.9:g.33944895T>G , CM000667.1:g.33944895T>G | GRCh37 |
| NC_000005.8:g.33980652T>G | NCBI36 |
| NG_011691.2:g.44886A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1451A>C MANE Select | ENSP00000296589.4:p.Gln484Pro | |
| ENST00000296589.8:c.1451A>C | ENSP00000296589.4:p.Gln484Pro | |
| NM_016180.4:c.1451A>C | NP_057264.3:p.Gln484Pro | |
| XM_011514051.1:c.1049A>C | XP_011512353.1:p.Gln350Pro | |
| NM_016180.5:c.1451A>C MANE Select | NP_057264.4:p.Gln484Pro |