Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372628A>C , CM000674.2:g.4372628A>C | GRCh38 |
| NC_000012.11:g.4481794A>C , CM000674.1:g.4481794A>C | GRCh37 |
| NC_000012.10:g.4352055A>C | NCBI36 |
| NG_007087.1:g.12101T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237837.2:c.281T>G MANE Select | ENSP00000237837.1:p.Leu94Arg | |
| ENST00000648100.1:c.*1967+6346A>C | ENSP00000497536.1:n.*1967+6346A>C | |
| ENST00000648269.1:n.1781T>G | ||
| ENST00000674624.1:c.*1204+6346A>C | ENSP00000501898.1:n.*1204+6346A>C | |
| ENST00000237837.1:c.281T>G | ENSP00000237837.1:p.Leu94Arg | |
| NM_020638.2:c.281T>G | NP_065689.1:p.Leu94Arg | |
| NM_020638.3:c.281T>G MANE Select | NP_065689.1:p.Leu94Arg |