Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659226T= , CM000685.2:g.136659226T= | GRCh38 |
| NC_000023.10:g.135741385T= , CM000685.1:g.135741385T= | GRCh37 |
| NC_000023.9:g.135569051T= | NCBI36 |
| NG_007280.1:g.16050T= , LRG_141:g.16050T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*215T= | ENSP00000512122.1:n.*215T= | |
| ENST00000695725.1:c.*152T= | ENSP00000512123.1:n.*152T= | |
| ENST00000695726.1:n.2565T= | ||
| ENST00000695729.1:n.3400T= | ||
| ENST00000370629.7:c.597T= MANE Select | ENSP00000359663.2:p.Gly199= | |
| ENST00000370628.2:c.534T= | ENSP00000359662.2:p.Gly178= | |
| ENST00000370629.6:c.597T= | ENSP00000359663.2:p.Gly199= | |
| NM_000074.2:c.597T= , LRG_141t1:c.597T= | NP_000065.1:p.Gly199= | |
| NM_000074.3:c.597T= MANE Select | NP_000065.1:p.Gly199= |