Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852914A= , CM000674.2:g.102852914A= | GRCh38 |
| NC_000012.11:g.103246692A= , CM000674.1:g.103246692A= | GRCh37 |
| NC_000012.10:g.101770822A= | NCBI36 |
| NG_008690.1:g.69689T= | |
| NG_008690.2:g.110497T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.743T= MANE Select | ENSP00000448059.1:p.Leu248= | |
| ENST00000307000.7:c.728T= | ENSP00000303500.2:p.Leu243= | |
| ENST00000549247.6:n.502T= | ||
| ENST00000553106.5:c.743T= | ENSP00000448059.1:p.Leu248= | |
| NM_000277.1:c.743T= | NP_000268.1:p.Leu248= | |
| XM_011538422.1:c.743T= | XP_011536724.1:p.Leu248= | |
| NM_000277.2:c.743T= | NP_000268.1:p.Leu248= | |
| NM_001354304.1:c.743T= | NP_001341233.1:p.Leu248= | |
| NM_000277.3:c.743T= MANE Select | NP_000268.1:p.Leu248= | |
| NM_001354304.2:c.743T= | NP_001341233.1:p.Leu248= |