Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877005G= , CM000668.2:g.131877005G= | GRCh38 |
| NC_000006.11:g.132198145G= , CM000668.1:g.132198145G= | GRCh37 |
| NC_000006.10:g.132239838G= | NCBI36 |
| NG_008206.1:g.73990G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.609G= | ||
| ENST00000684536.1:n.235G= | ||
| ENST00000647893.1:c.1737G= MANE Select | ENSP00000498074.1:p.Leu579= | |
| ENST00000647981.1:n.422G= | ||
| ENST00000650437.1:c.1228G= | ||
| ENST00000360971.6:c.1737G= | ENSP00000354238.2:p.Leu579= | |
| ENST00000459624.1:n.781G= | ||
| ENST00000513998.5:c.*574G= | ENSP00000422424.1:n.*574G= | |
| NM_006208.2:c.1737G= | NP_006199.2:p.Leu579= | |
| XM_011535896.1:c.627G= | XP_011534198.1:p.Leu209= | |
| NM_006208.3:c.1737G= MANE Select | NP_006199.2:p.Leu579= |