Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738280G>A , CM000674.2:g.120738280G>A | GRCh38 |
| NC_000012.11:g.121176083G>A , CM000674.1:g.121176083G>A | GRCh37 |
| NC_000012.10:g.119660466G>A | NCBI36 |
| NG_007991.1:g.17513G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.625G>A MANE Select | NP_000008.1:p.Gly209Ser |
| ENST00000242592.9:c.625G>A MANE Select | ENSP00000242592.4:p.Gly209Ser |
| NM_000017.3:c.625G>A | NP_000008.1:p.Gly209Ser |
| NM_001302554.1:c.613G>A | NP_001289483.1:p.Gly205Ser |
| NM_001302554.2:c.613G>A | NP_001289483.1:p.Gly205Ser |
| ENST00000242592.8:c.625G>A | ENSP00000242592.4:p.Gly209Ser |
| ENST00000411593.2:c.613G>A | ENSP00000401045.2:p.Gly205Ser |