Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67943198C>T , CM000678.2:g.67943198C>T | GRCh38 |
| NC_000016.9:g.67977101C>T , CM000678.1:g.67977101C>T | GRCh37 |
| NC_000016.8:g.66534602C>T | NCBI36 |
| NG_009778.1:g.5915G>A | |
| NG_033098.1:g.30497G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.169G>A MANE Select | NP_000220.1:p.Gly57Arg |
| ENST00000264005.10:c.169G>A MANE Select | ENSP00000264005.5:p.Gly57Arg |
| NM_000229.1:c.169G>A | NP_000220.1:p.Gly57Arg |
| ENST00000264005.9:c.169G>A | ENSP00000264005.5:p.Gly57Arg |
| ENST00000570980.1:c.-48G>A | ENSP00000464651.1:n.-48G>A |
| ENST00000575467.5:c.155-9G>A | ENSP00000460653.1:n.155-9G>A |