Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003551A>C , CM000676.2:g.75003551A>C | GRCh38 |
| NC_000014.8:g.75470254A>C , CM000676.1:g.75470254A>C | GRCh37 |
| NC_000014.7:g.74540007A>C | NCBI36 |
| NG_013333.1:g.5643A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.285A>C MANE Select | ENSP00000266126.5:p.Arg95Ser | |
| ENST00000266126.9:c.285A>C | ENSP00000266126.5:p.Arg95Ser | |
| ENST00000553401.5:c.258A>C | ENSP00000451681.1:p.Arg86Ser | |
| ENST00000553539.1:n.580A>C | ||
| ENST00000555522.1:n.343A>C | ||
| ENST00000556028.5:c.285A>C | ENSP00000452311.1:p.Arg95Ser | |
| NM_014239.3:c.285A>C | NP_055054.1:p.Arg95Ser | |
| NM_014239.4:c.285A>C MANE Select | NP_055054.1:p.Arg95Ser |