Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007129A= , CM000685.2:g.25007129A= | GRCh38 |
| NC_000023.10:g.25025246A= , CM000685.1:g.25025246A= | GRCh37 |
| NC_000023.9:g.24935167A= | NCBI36 |
| NG_008281.1:g.13820T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1430T= MANE Select | ENSP00000368332.4:p.Ile477= | |
| ENST00000637993.1:c.43T= | ||
| ENST00000379044.4:c.1430T= | ENSP00000368332.4:p.Ile477= | |
| NM_139058.2:c.1430T= | NP_620689.1:p.Ile477= | |
| NM_139058.3:c.1430T= MANE Select | NP_620689.1:p.Ile477= |