Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57166668G= , CM000681.2:g.57166668G= | GRCh38 |
| NC_000019.9:g.57678036G= , CM000681.1:g.57678036G= | GRCh37 |
| NC_000019.8:g.62369848G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554048.3:c.25+751C= MANE Select | ENSP00000452398.1:n.25+751C= | |
| ENST00000554048.2:c.25+751C= | ENSP00000452398.1:n.25+751C= | |
| NM_001012729.1:c.25+751C= | NP_001012747.1:n.25+751C= | |
| NM_001012729.2:c.25+751C= MANE Select | NP_001012747.1:n.25+751C= |