Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960940T= , CM000670.2:g.19960940T= | GRCh38 |
| NC_000008.10:g.19818451T= , CM000670.1:g.19818451T= | GRCh37 |
| NC_000008.9:g.19862731T= | NCBI36 |
| NG_008855.1:g.26870T= | |
| NG_008855.2:g.64224T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1179T= MANE Select | ENSP00000497642.1:p.Ile393= | |
| ENST00000650478.1:c.119T= | ENSP00000497560.1:n.119T= | |
| ENST00000311322.8:c.1179T= | ENSP00000309757.6:p.Ile393= | |
| NM_000237.2:c.1179T= | NP_000228.1:p.Ile393= | |
| NM_000237.3:c.1179T= MANE Select | NP_000228.1:p.Ile393= |