Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750399G>A , CM000684.2:g.27750399G>A | GRCh38 |
| NC_000022.10:g.28146387G>A , CM000684.1:g.28146387G>A | GRCh37 |
| NC_000022.9:g.26476387G>A | NCBI36 |
| NG_023258.1:g.56100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.1004C>T | ||
| ENST00000302326.5:c.*516C>T MANE Select | ENSP00000304956.4:n.*516C>T | |
| ENST00000302326.4:c.*516C>T | ENSP00000304956.4:n.*516C>T | |
| ENST00000424656.1:c.456-171C>T | ||
| NM_002430.2:c.*516C>T | NP_002421.3:n.*516C>T | |
| NM_002430.3:c.*516C>T MANE Select | NP_002421.3:n.*516C>T |