Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34456207G>T , CM000673.2:g.34456207G>T | GRCh38 |
| NC_000011.9:g.34477754G>T , CM000673.1:g.34477754G>T | GRCh37 |
| NC_000011.8:g.34434330G>T | NCBI36 |
| NG_013339.1:g.22283G>T | |
| NG_013339.2:g.22283G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001752.4:c.903+5G>T MANE Select | NP_001743.1:n.903+5G>T |
| ENST00000241052.5:c.903+5G>T MANE Select | ENSP00000241052.4:n.903+5G>T |
| NM_001752.3:c.903+5G>T | NP_001743.1:n.903+5G>T |
| ENST00000241052.4:c.903+5G>T | ENSP00000241052.4:n.903+5G>T |
| ENST00000528104.1:n.54+5G>T | |
| ENST00000528104.2:n.273+5G>T | |
| ENST00000650153.1:c.817+5G>T |