Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659310A= , CM000685.2:g.136659310A= | GRCh38 |
| NC_000023.10:g.135741469A= , CM000685.1:g.135741469A= | GRCh37 |
| NC_000023.9:g.135569135A= | NCBI36 |
| NG_007280.1:g.16134A= , LRG_141:g.16134A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*299A= | ENSP00000512122.1:n.*299A= | |
| ENST00000695725.1:c.*236A= | ENSP00000512123.1:n.*236A= | |
| ENST00000695726.1:n.2649A= | ||
| ENST00000695729.1:n.3484A= | ||
| ENST00000370629.7:c.681A= MANE Select | ENSP00000359663.2:p.Gly227= | |
| ENST00000370628.2:c.618A= | ENSP00000359662.2:p.Gly206= | |
| ENST00000370629.6:c.681A= | ENSP00000359663.2:p.Gly227= | |
| NM_000074.2:c.681A= , LRG_141t1:c.681A= | NP_000065.1:p.Gly227= | |
| NM_000074.3:c.681A= MANE Select | NP_000065.1:p.Gly227= |