Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372690C= , CM000674.2:g.4372690C= | GRCh38 |
| NC_000012.11:g.4481856C= , CM000674.1:g.4481856C= | GRCh37 |
| NC_000012.10:g.4352117C= | NCBI36 |
| NG_007087.1:g.12039G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.219G= MANE Select | ENSP00000237837.1:p.Leu73= | |
| ENST00000648100.1:c.*1967+6408C= | ENSP00000497536.1:n.*1967+6408C= | |
| ENST00000648269.1:n.1719G= | ||
| ENST00000674624.1:c.*1204+6408C= | ENSP00000501898.1:n.*1204+6408C= | |
| ENST00000237837.1:c.219G= | ENSP00000237837.1:p.Leu73= | |
| NM_020638.2:c.219G= | NP_065689.1:p.Leu73= | |
| NM_020638.3:c.219G= MANE Select | NP_065689.1:p.Leu73= |