Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20253705A>C , CM000672.2:g.20253705A>C | GRCh38 |
| NC_000010.10:g.20542634A>C , CM000672.1:g.20542634A>C | GRCh37 |
| NC_000010.9:g.20582640A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032812.9:c.1473+8200A>C MANE Select | NP_116201.7:n.1473+8200A>C |
| ENST00000377252.5:c.1473+8200A>C MANE Select | ENSP00000366460.3:n.1473+8200A>C |
| NM_001282736.1:c.1326+8200A>C | NP_001269665.1:n.1326+8200A>C |
| NM_001282736.2:c.1326+8200A>C | NP_001269665.1:n.1326+8200A>C |
| NM_032812.8:c.1473+8200A>C | NP_116201.7:n.1473+8200A>C |
| ENST00000377238.2:n.1248+8200A>C | |
| ENST00000377242.7:c.1326+8200A>C | ENSP00000366450.3:n.1326+8200A>C |
| ENST00000377252.4:c.1473+8200A>C | ENSP00000366460.3:n.1473+8200A>C |