Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659135A= , CM000685.2:g.136659135A= | GRCh38 |
| NC_000023.10:g.135741294A= , CM000685.1:g.135741294A= | GRCh37 |
| NC_000023.9:g.135568960A= | NCBI36 |
| NG_007280.1:g.15959A= , LRG_141:g.15959A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*124A= | ENSP00000512122.1:n.*124A= | |
| ENST00000695725.1:c.*61A= | ENSP00000512123.1:n.*61A= | |
| ENST00000695726.1:n.2474A= | ||
| ENST00000695729.1:n.3309A= | ||
| ENST00000370629.7:c.506A= MANE Select | ENSP00000359663.2:p.Tyr169= | |
| ENST00000370628.2:c.443A= | ENSP00000359662.2:p.Tyr148= | |
| ENST00000370629.6:c.506A= | ENSP00000359663.2:p.Tyr169= | |
| NM_000074.2:c.506A= , LRG_141t1:c.506A= | NP_000065.1:p.Tyr169= | |
| NM_000074.3:c.506A= MANE Select | NP_000065.1:p.Tyr169= |