Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739721C>G , CM000670.2:g.86739721C>G | GRCh38 |
| NC_000008.10:g.87751949C>G , CM000670.1:g.87751949C>G | GRCh37 |
| NC_000008.9:g.87821065C>G | NCBI36 |
| NG_016980.1:g.8955G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.145G>C MANE Select | ENSP00000316605.5:p.Glu49Gln | |
| ENST00000681746.1:c.145G>C | ENSP00000505959.1:p.Glu49Gln | |
| ENST00000320005.5:c.145G>C | ENSP00000316605.5:p.Glu49Gln | |
| ENST00000519777.1:n.127G>C | ||
| NM_019098.4:c.145G>C | NP_061971.3:p.Glu49Gln | |
| NM_019098.5:c.145G>C MANE Select | NP_061971.3:p.Glu49Gln |