Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659050G= , CM000685.2:g.136659050G= | GRCh38 |
| NC_000023.10:g.135741209G= , CM000685.1:g.135741209G= | GRCh37 |
| NC_000023.9:g.135568875G= | NCBI36 |
| NG_007280.1:g.15874G= , LRG_141:g.15874G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*39G= | ENSP00000512122.1:n.*39G= | |
| ENST00000695725.1:c.168G= | ENSP00000512123.1:p.Gly56= | |
| ENST00000695726.1:n.2389G= | ||
| ENST00000695729.1:n.3224G= | ||
| ENST00000370629.7:c.421G= MANE Select | ENSP00000359663.2:p.Ala141= | |
| ENST00000370628.2:c.358G= | ENSP00000359662.2:p.Ala120= | |
| ENST00000370629.6:c.421G= | ENSP00000359663.2:p.Ala141= | |
| NM_000074.2:c.421G= , LRG_141t1:c.421G= | NP_000065.1:p.Ala141= | |
| NM_000074.3:c.421G= MANE Select | NP_000065.1:p.Ala141= |