Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49219935T>C , CM000679.2:g.49219935T>C | GRCh38 |
| NC_000017.10:g.47297297T>C , CM000679.1:g.47297297T>C | GRCh37 |
| NC_000017.9:g.44652296T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016428.3:c.626T>C MANE Select | NP_057512.2:p.Phe209Ser |
| ENST00000225941.6:c.626T>C MANE Select | ENSP00000225941.1:p.Phe209Ser |
| NM_001135186.2:c.608T>C | NP_001128658.2:p.Phe203Ser |
| ENST00000225941.5:c.626T>C | ENSP00000225941.1:p.Phe209Ser |
| ENST00000419580.6:c.608T>C | ENSP00000406651.2:p.Phe203Ser |
| ENST00000571035.1:c.78T>C | |
| ENST00000573347.5:c.141T>C | |
| XM_005257429.2:c.626T>C | XP_005257486.1:p.Phe209Ser |
| XM_011524873.1:c.626T>C | XP_011523175.1:p.Phe209Ser |
| XM_017024721.1:c.626T>C | XP_016880210.1:p.Phe209Ser |