Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659218T= , CM000685.2:g.136659218T= | GRCh38 |
| NC_000023.10:g.135741377T= , CM000685.1:g.135741377T= | GRCh37 |
| NC_000023.9:g.135569043T= | NCBI36 |
| NG_007280.1:g.16042T= , LRG_141:g.16042T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*207T= | ENSP00000512122.1:n.*207T= | |
| ENST00000695725.1:c.*144T= | ENSP00000512123.1:n.*144T= | |
| ENST00000695726.1:n.2557T= | ||
| ENST00000695729.1:n.3392T= | ||
| ENST00000370629.7:c.589T= MANE Select | ENSP00000359663.2:p.Ser197= | |
| ENST00000370628.2:c.526T= | ENSP00000359662.2:p.Ser176= | |
| ENST00000370629.6:c.589T= | ENSP00000359663.2:p.Ser197= | |
| NM_000074.2:c.589T= , LRG_141t1:c.589T= | NP_000065.1:p.Ser197= | |
| NM_000074.3:c.589T= MANE Select | NP_000065.1:p.Ser197= |