Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060706A= , CM000663.2:g.94060706A= | GRCh38 |
| NC_000001.10:g.94526262A= , CM000663.1:g.94526262A= | GRCh37 |
| NC_000001.9:g.94298850A= | NCBI36 |
| NG_009073.1:g.65444T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1991T= MANE Select | ENSP00000359245.3:p.Ile664= | |
| ENST00000649773.1:c.1991T= | ENSP00000496882.1:p.Ile664= | |
| ENST00000370225.3:c.1991T= | ENSP00000359245.3:p.Ile664= | |
| ENST00000472033.1:n.111T= | ||
| ENST00000536513.5:c.-65+2468T= | ENSP00000439707.2:n.-65+2468T= | |
| NM_000350.2:c.1991T= | NP_000341.2:p.Ile664= | |
| NM_000350.3:c.1991T= MANE Select | NP_000341.2:p.Ile664= |