Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242531A>G , CM000684.2:g.20242531A>G | GRCh38 |
| NC_000022.10:g.20230054A>G , CM000684.1:g.20230054A>G | GRCh37 |
| NC_000022.9:g.18610054A>G | NCBI36 |
| NG_012176.1:g.30763T>C | |
| NG_012176.2:g.30763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.602T>C MANE Select | ENSP00000043402.7:p.Leu201Pro | |
| ENST00000043402.7:c.602T>C | ENSP00000043402.7:p.Leu201Pro | |
| ENST00000416372.5:c.661T>C | ||
| ENST00000425986.1:c.859T>C | ||
| NM_023004.5:c.602T>C | NP_075380.1:p.Leu201Pro | |
| NM_023004.6:c.602T>C MANE Select | NP_075380.1:p.Leu201Pro |