Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34456818G>C , CM000673.2:g.34456818G>C | GRCh38 |
| NC_000011.9:g.34478365G>C , CM000673.1:g.34478365G>C | GRCh37 |
| NC_000011.8:g.34434941G>C | NCBI36 |
| NG_013339.1:g.22894G>C | |
| NG_013339.2:g.22894G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001752.4:c.1056+1G>C MANE Select | NP_001743.1:n.1056+1G>C |
| ENST00000241052.5:c.1056+1G>C MANE Select | ENSP00000241052.4:n.1056+1G>C |
| NM_001752.3:c.1056+1G>C | NP_001743.1:n.1056+1G>C |
| ENST00000241052.4:c.1056+1G>C | ENSP00000241052.4:n.1056+1G>C |
| ENST00000528104.1:n.208G>C | |
| ENST00000528104.2:n.427G>C | |
| ENST00000650153.1:c.970+1G>C |