Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134559G>T , CM000672.2:g.117134559G>T | GRCh38 |
| NC_000010.10:g.118894070G>T , CM000672.1:g.118894070G>T | GRCh37 |
| NC_000010.9:g.118884060G>T | NCBI36 |
| NG_012317.1:g.8743C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.454C>A MANE Select | NP_001106175.1:p.Arg152Ser |
| ENST00000369206.6:c.454C>A MANE Select | ENSP00000358207.4:p.Arg152Ser |
| NM_001112704.1:c.454C>A | NP_001106175.1:p.Arg152Ser |
| NM_199131.2:c.429+1913C>A | NP_954582.1:n.429+1913C>A |
| NM_199131.3:c.429+1913C>A | NP_954582.1:n.429+1913C>A |
| ENST00000277905.6:c.429+1913C>A | ENSP00000277905.2:n.429+1913C>A |
| ENST00000369206.5:c.454C>A | ENSP00000358207.4:p.Arg152Ser |