Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26027196G>C , CM000668.2:g.26027196G>C | GRCh38 |
| NC_000006.11:g.26027424G>C , CM000668.1:g.26027424G>C | GRCh37 |
| NC_000006.10:g.26135403G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003544.3:c.57C>G MANE Select | NP_003535.1:p.His19Gln |
| ENST00000377745.5:c.57C>G MANE Select | ENSP00000366974.2:p.His19Gln |
| NM_003544.2:c.57C>G | NP_003535.1:p.His19Gln |
| ENST00000377745.3:c.57C>G | ENSP00000366974.2:p.His19Gln |