Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242715A>G , CM000684.2:g.20242715A>G | GRCh38 |
| NC_000022.10:g.20230238A>G , CM000684.1:g.20230238A>G | GRCh37 |
| NC_000022.9:g.18610238A>G | NCBI36 |
| NG_012176.1:g.30579T>C | |
| NG_012176.2:g.30579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.418T>C MANE Select | ENSP00000043402.7:p.Cys140Arg | |
| ENST00000043402.7:c.418T>C | ENSP00000043402.7:p.Cys140Arg | |
| ENST00000416372.5:c.477T>C | ||
| ENST00000425986.1:c.675T>C | ||
| ENST00000469601.1:n.554T>C | ||
| NM_023004.5:c.418T>C | NP_075380.1:p.Cys140Arg | |
| NM_023004.6:c.418T>C MANE Select | NP_075380.1:p.Cys140Arg |