Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372629G>T , CM000674.2:g.4372629G>T | GRCh38 |
| NC_000012.11:g.4481795G>T , CM000674.1:g.4481795G>T | GRCh37 |
| NC_000012.10:g.4352056G>T | NCBI36 |
| NG_007087.1:g.12100C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237837.2:c.280C>A MANE Select | ENSP00000237837.1:p.Leu94Ile | |
| ENST00000648100.1:c.*1967+6347G>T | ENSP00000497536.1:n.*1967+6347G>T | |
| ENST00000648269.1:n.1780C>A | ||
| ENST00000674624.1:c.*1204+6347G>T | ENSP00000501898.1:n.*1204+6347G>T | |
| ENST00000237837.1:c.280C>A | ENSP00000237837.1:p.Leu94Ile | |
| NM_020638.2:c.280C>A | NP_065689.1:p.Leu94Ile | |
| NM_020638.3:c.280C>A MANE Select | NP_065689.1:p.Leu94Ile |