Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41221292C>T , CM000681.2:g.41221292C>T | GRCh38 |
| NC_000019.9:g.41727197C>T , CM000681.1:g.41727197C>T | GRCh37 |
| NC_000019.8:g.46419037C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301178.9:c.409+46C>T MANE Select | ENSP00000301178.3:n.409+46C>T | |
| ENST00000301178.8:c.409+46C>T | ENSP00000301178.3:n.409+46C>T | |
| ENST00000359092.7:c.409+46C>T | ENSP00000351995.2:n.409+46C>T | |
| ENST00000594880.1:n.426+46C>T | ||
| ENST00000599659.5:n.423+46C>T | ||
| NM_001699.5:c.409+46C>T | NP_001690.2:n.409+46C>T | |
| NM_021913.4:c.409+46C>T | NP_068713.2:n.409+46C>T | |
| NM_021913.5:c.409+46C>T MANE Select | NP_068713.2:n.409+46C>T | |
| NM_001699.6:c.409+46C>T | NP_001690.2:n.409+46C>T |