Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68155466G>A , CM000674.2:g.68155466G>A | GRCh38 |
| NC_000012.11:g.68549246G>A , CM000674.1:g.68549246G>A | GRCh37 |
| NC_000012.10:g.66835513G>A | NCBI36 |
| NG_015840.1:g.9276C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000619.3:c.388C>T MANE Select | NP_000610.2:p.Arg130Cys |
| ENST00000229135.4:c.388C>T MANE Select | ENSP00000229135.3:p.Arg130Cys |
| NM_000619.2:c.388C>T | NP_000610.2:p.Arg130Cys |
| ENST00000229135.3:c.388C>T | ENSP00000229135.3:p.Arg130Cys |