Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997919G>A , CM000663.2:g.93997919G>A | GRCh38 |
| NC_000001.10:g.94463475G>A , CM000663.1:g.94463475G>A | GRCh37 |
| NC_000001.9:g.94236063G>A | NCBI36 |
| NG_009073.1:g.128231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6671C>T MANE Select | ENSP00000359245.3:p.Ser2224Phe | |
| ENST00000370225.3:c.6671C>T | ENSP00000359245.3:p.Ser2224Phe | |
| ENST00000536513.5:c.3047C>T | ENSP00000439707.2:p.Ser1016Phe | |
| NM_000350.2:c.6671C>T | NP_000341.2:p.Ser2224Phe | |
| NM_000350.3:c.6671C>T MANE Select | NP_000341.2:p.Ser2224Phe |