Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443244C>A , CM000668.2:g.32443244C>A | GRCh38 |
| NC_000006.11:g.32411021C>A , CM000668.1:g.32411021C>A | GRCh37 |
| NC_000006.10:g.32518999C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.388C>A MANE Select | ENSP00000378786.2:p.Leu130Ile | |
| ENST00000374982.5:c.329-16C>A | ENSP00000364121.5:n.329-16C>A | |
| ENST00000395388.6:c.388C>A | ENSP00000378786.2:p.Leu130Ile | |
| NM_019111.4:c.388C>A | NP_061984.2:p.Leu130Ile | |
| NM_019111.5:c.388C>A MANE Select | NP_061984.2:p.Leu130Ile |