Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891380G>T , CM000664.2:g.72891380G>T | GRCh38 |
| NC_000002.11:g.73118509G>T , CM000664.1:g.73118509G>T | GRCh37 |
| NC_000002.10:g.72972017G>T | NCBI36 |
| NG_008234.1:g.8998G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.629G>T MANE Select | ENSP00000234454.5:p.Arg210Leu | |
| ENST00000234454.5:c.629G>T | ENSP00000234454.5:p.Arg210Leu | |
| ENST00000498749.1:n.574G>T | ||
| NM_003124.4:c.629G>T | NP_003115.1:p.Arg210Leu | |
| NM_003124.5:c.629G>T MANE Select | NP_003115.1:p.Arg210Leu |