Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2323523C>T , CM000678.2:g.2323523C>T | GRCh38 |
| NC_000016.9:g.2373524C>T , CM000678.1:g.2373524C>T | GRCh37 |
| NC_000016.8:g.2313525C>T | NCBI36 |
| NG_011790.1:g.22224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.613G>A MANE Select | ENSP00000301732.5:p.Gly205Arg | |
| ENST00000301732.9:c.613G>A | ENSP00000301732.5:p.Gly205Arg | |
| ENST00000382381.7:c.613G>A | ENSP00000371818.3:p.Gly205Arg | |
| ENST00000563623.5:n.1176G>A | ||
| ENST00000567910.1:c.613G>A | ENSP00000454397.1:p.Gly205Ser | |
| NM_001089.2:c.613G>A | NP_001080.2:p.Gly205Arg | |
| NM_001089.3:c.613G>A MANE Select | NP_001080.2:p.Gly205Arg |