Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136792331G>C , CM000671.2:g.136792331G>C | GRCh38 |
| NC_000009.11:g.139686783G>C , CM000671.1:g.139686783G>C | GRCh37 |
| NC_000009.10:g.138806604G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032928.4:c.286G>C MANE Select | NP_116317.1:p.Gly96Arg |
| ENST00000290079.9:c.286G>C MANE Select | ENSP00000290079.8:p.Gly96Arg |
| NM_032928.3:c.286G>C | NP_116317.1:p.Gly96Arg |
| ENST00000290079.8:c.286G>C | ENSP00000290079.8:p.Gly96Arg |
| ENST00000456614.2:c.211G>C | |
| ENST00000465017.5:n.374G>C | |
| ENST00000479737.1:n.380G>C | |
| ENST00000483187.5:n.218G>C | |
| ENST00000484854.1:n.552G>C | |
| ENST00000489739.1:n.473G>C |