Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19514962C>T , CM000681.2:g.19514962C>T | GRCh38 |
| NC_000019.9:g.19625771C>T , CM000681.1:g.19625771C>T | GRCh37 |
| NC_000019.8:g.19486771C>T | NCBI36 |
| NG_013380.1:g.3753C>T | |
| NG_033078.1:g.5699G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032037.4:c.466G>A MANE Select | NP_114426.1:p.Gly156Ser |
| ENST00000585580.4:c.466G>A MANE Select | ENSP00000466477.1:p.Gly156Ser |
| NM_032037.3:c.466G>A | NP_114426.1:p.Gly156Ser |
| ENST00000585580.3:c.466G>A | ENSP00000466477.1:p.Gly156Ser |
| ENST00000587522.3:c.466G>A | ENSP00000466056.1:p.Gly156Ser |