Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57166692A>T , CM000681.2:g.57166692A>T | GRCh38 |
| NC_000019.9:g.57678060A>T , CM000681.1:g.57678060A>T | GRCh37 |
| NC_000019.8:g.62369872A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554048.3:c.25+727T>A MANE Select | ENSP00000452398.1:n.25+727T>A | |
| ENST00000554048.2:c.25+727T>A | ENSP00000452398.1:n.25+727T>A | |
| NM_001012729.1:c.25+727T>A | NP_001012747.1:n.25+727T>A | |
| NM_001012729.2:c.25+727T>A MANE Select | NP_001012747.1:n.25+727T>A |