Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073534A>C , CM000664.2:g.29073534A>C | GRCh38 |
| NC_000002.11:g.29296400A>C , CM000664.1:g.29296400A>C | GRCh37 |
| NC_000002.10:g.29149904A>C | NCBI36 |
| NG_021427.1:g.5728T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.728T>G MANE Select | ENSP00000332809.4:p.Leu243Arg | |
| ENST00000331664.5:c.728T>G | ENSP00000332809.4:p.Leu243Arg | |
| NM_001029883.2:c.728T>G | NP_001025054.1:p.Leu243Arg | |
| XM_011532826.1:c.728T>G | XP_011531128.1:p.Leu243Arg | |
| XR_939901.1:n.185+4367A>C | ||
| XR_939902.1:n.173+4379A>C | ||
| NM_001029883.3:c.728T>G MANE Select | NP_001025054.1:p.Leu243Arg |