Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013961T= , CM000679.2:g.8013961T= | GRCh38 |
| NC_000017.10:g.7917279T= , CM000679.1:g.7917279T= | GRCh37 |
| NC_000017.9:g.7858004T= | NCBI36 |
| NG_009092.1:g.16292T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.2345T= MANE Select | NP_000171.1:p.Leu782= |
| ENST00000254854.5:c.2345T= MANE Select | ENSP00000254854.4:p.Leu782= |
| NM_000180.3:c.2345T= | NP_000171.1:p.Leu782= |
| ENST00000254854.4:c.2345T= | ENSP00000254854.4:p.Leu782= |
| XM_011523816.1:c.2345T= | XP_011522118.1:p.Leu782= |