Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34438994T>C , CM000673.2:g.34438994T>C | GRCh38 |
| NC_000011.9:g.34460541T>C , CM000673.1:g.34460541T>C | GRCh37 |
| NC_000011.8:g.34417117T>C | NCBI36 |
| NG_013339.1:g.5070T>C | |
| NG_013339.2:g.5070T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001752.4:c.-20T>C MANE Select | NP_001743.1:n.-20T>C |
| ENST00000241052.5:c.-20T>C MANE Select | ENSP00000241052.4:n.-20T>C |
| NM_001752.3:c.-20T>C | NP_001743.1:n.-20T>C |
| ENST00000241052.4:c.-20T>C | ENSP00000241052.4:n.-20T>C |