Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308322C>G , CM000685.2:g.30308322C>G | GRCh38 |
| NC_000023.10:g.30326439C>G , CM000685.1:g.30326439C>G | GRCh37 |
| NC_000023.9:g.30236360C>G | NCBI36 |
| NG_009814.1:g.6057G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1042G>C MANE Select | ENSP00000368253.4:p.Glu348Gln | |
| ENST00000378963.1:c.157G>C | ENSP00000368246.1:p.Glu53Gln | |
| ENST00000378970.4:c.1042G>C | ENSP00000368253.4:p.Glu348Gln | |
| NM_000475.4:c.1042G>C | NP_000466.2:p.Glu348Gln | |
| NM_000475.5:c.1042G>C MANE Select | NP_000466.2:p.Glu348Gln |