Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308315C>G , CM000685.2:g.30308315C>G | GRCh38 |
| NC_000023.10:g.30326432C>G , CM000685.1:g.30326432C>G | GRCh37 |
| NC_000023.9:g.30236353C>G | NCBI36 |
| NG_009814.1:g.6064G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1049G>C MANE Select | ENSP00000368253.4:p.Arg350Thr | |
| ENST00000378963.1:c.164G>C | ENSP00000368246.1:p.Arg55Thr | |
| ENST00000378970.4:c.1049G>C | ENSP00000368253.4:p.Arg350Thr | |
| NM_000475.4:c.1049G>C | NP_000466.2:p.Arg350Thr | |
| NM_000475.5:c.1049G>C MANE Select | NP_000466.2:p.Arg350Thr |