Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242450A>C , CM000684.2:g.20242450A>C | GRCh38 |
| NC_000022.10:g.20229973A>C , CM000684.1:g.20229973A>C | GRCh37 |
| NC_000022.9:g.18609973A>C | NCBI36 |
| NG_012176.1:g.30844T>G | |
| NG_012176.2:g.30844T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.683T>G MANE Select | ENSP00000043402.7:p.Leu228Arg | |
| ENST00000043402.7:c.683T>G | ENSP00000043402.7:p.Leu228Arg | |
| ENST00000416372.5:c.742T>G | ||
| ENST00000425986.1:c.940T>G | ||
| NM_023004.5:c.683T>G | NP_075380.1:p.Leu228Arg | |
| NM_023004.6:c.683T>G MANE Select | NP_075380.1:p.Leu228Arg |