Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071910T>A , CM000667.2:g.111071910T>A | GRCh38 |
| NC_000005.9:g.110407608T>A , CM000667.1:g.110407608T>A | GRCh37 |
| NC_000005.8:g.110435507T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.20T>A MANE Select | ENSP00000339804.3:p.Leu7Gln | |
| ENST00000344895.3:c.20T>A | ENSP00000339804.3:p.Leu7Gln | |
| ENST00000420978.6:c.35-15T>A | ENSP00000399099.2:n.35-15T>A | |
| NM_033035.4:c.20T>A | NP_149024.1:p.Leu7Gln | |
| NR_045089.1:n.1439-15T>A | ||
| NM_033035.5:c.20T>A MANE Select | NP_149024.1:p.Leu7Gln | |
| NR_045089.2:n.1457-15T>A |