Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21494705G>T , CM000672.2:g.21494705G>T | GRCh38 |
| NC_000010.10:g.21783634G>T , CM000672.1:g.21783634G>T | GRCh37 |
| NC_000010.9:g.21823640G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010911.2:c.*895C>A | NP_001010911.1:n.*895C>A |
| NM_001010911.3:c.*895C>A | NP_001010911.1:n.*895C>A |
| NR_160800.1:n.1752C>A | |
| ENST00000377113.5:c.*895C>A | ENSP00000366317.5:n.*895C>A |