Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873991G= , CM000664.2:g.240873991G= | GRCh38 |
| NC_000002.11:g.241813408G= , CM000664.1:g.241813408G= | GRCh37 |
| NC_000002.10:g.241462081G= | NCBI36 |
| NG_008005.1:g.10247G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.609G= MANE Select | ENSP00000302620.3:p.Leu203= | |
| ENST00000307503.3:c.609G= | ENSP00000302620.3:p.Leu203= | |
| ENST00000476698.1:n.332+942G= | ||
| NM_000030.2:c.609G= | NP_000021.1:p.Leu203= | |
| NM_000030.3:c.609G= MANE Select | NP_000021.1:p.Leu203= |