Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944789C>G , CM000667.2:g.33944789C>G | GRCh38 |
| NC_000005.9:g.33944894C>G , CM000667.1:g.33944894C>G | GRCh37 |
| NC_000005.8:g.33980651C>G | NCBI36 |
| NG_011691.2:g.44887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1452G>C MANE Select | ENSP00000296589.4:p.Gln484His | |
| ENST00000296589.8:c.1452G>C | ENSP00000296589.4:p.Gln484His | |
| NM_016180.4:c.1452G>C | NP_057264.3:p.Gln484His | |
| XM_011514051.1:c.1050G>C | XP_011512353.1:p.Gln350His | |
| NM_016180.5:c.1452G>C MANE Select | NP_057264.4:p.Gln484His |