Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632768G>A , CM000670.2:g.86632768G>A | GRCh38 |
| NC_000008.10:g.87644996G>A , CM000670.1:g.87644996G>A | GRCh37 |
| NC_000008.9:g.87714112G>A | NCBI36 |
| NG_016980.1:g.115908C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1304C>T MANE Select | NP_061971.3:p.Ser435Phe |
| ENST00000320005.6:c.1304C>T MANE Select | ENSP00000316605.5:p.Ser435Phe |
| NM_019098.4:c.1304C>T | NP_061971.3:p.Ser435Phe |
| ENST00000320005.5:c.1304C>T | ENSP00000316605.5:p.Ser435Phe |
| ENST00000681546.1:n.1124C>T | |
| ENST00000681746.1:c.1304C>T | ENSP00000505959.1:p.Ser435Phe |
| XM_011517138.1:c.890C>T | XP_011515440.1:p.Ser297Phe |
| XM_011517138.2:c.890C>T | XP_011515440.1:p.Ser297Phe |