Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003378C= , CM000676.2:g.75003378C= | GRCh38 |
| NC_000014.8:g.75470081C= , CM000676.1:g.75470081C= | GRCh37 |
| NC_000014.7:g.74539834C= | NCBI36 |
| NG_013333.1:g.5470C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.267C= MANE Select | ENSP00000266126.5:p.Ile89= | |
| ENST00000266126.9:c.267C= | ENSP00000266126.5:p.Ile89= | |
| ENST00000553401.5:c.240C= | ENSP00000451681.1:p.Ile80= | |
| ENST00000553539.1:n.407C= | ||
| ENST00000555522.1:n.325C= | ||
| ENST00000556028.5:c.267C= | ENSP00000452311.1:p.Ile89= | |
| NM_014239.3:c.267C= | NP_055054.1:p.Ile89= | |
| NM_014239.4:c.267C= MANE Select | NP_055054.1:p.Ile89= |