Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9936480C>A , CM000681.2:g.9936480C>A | GRCh38 |
| NC_000019.9:g.10047156C>A , CM000681.1:g.10047156C>A | GRCh37 |
| NC_000019.8:g.9908156C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058164.4:c.-114G>T MANE Select | NP_477512.1:n.-114G>T |
| ENST00000264833.9:c.-114G>T MANE Select | ENSP00000264833.3:n.-114G>T |
| NM_058164.3:c.-114G>T | NP_477512.1:n.-114G>T |
| ENST00000264833.8:c.-114G>T | ENSP00000264833.3:n.-114G>T |