Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951936C= , CM000670.2:g.19951936C= | GRCh38 |
| NC_000008.10:g.19809447C= , CM000670.1:g.19809447C= | GRCh37 |
| NC_000008.9:g.19853727C= | NCBI36 |
| NG_008855.1:g.17866C= | |
| NG_008855.2:g.55220C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.417C= MANE Select | ENSP00000497642.1:p.Ile139= | |
| ENST00000311322.8:c.417C= | ENSP00000309757.6:p.Ile139= | |
| ENST00000520959.5:c.189C= | ENSP00000428496.1:p.Ile63= | |
| NM_000237.2:c.417C= | NP_000228.1:p.Ile139= | |
| NM_000237.3:c.417C= MANE Select | NP_000228.1:p.Ile139= |