Linked Data
dbSNP Id:
rs762250264
ExAC:
4:68797765 A / G
gnomAD v2:
4-68797765-A-G
gnomAD v4:
4-67932047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932047A>G , CM000666.2:g.67932047A>G | GRCh38 |
| NC_000004.11:g.68797765A>G , CM000666.1:g.68797765A>G | GRCh37 |
| NC_000004.10:g.68480360A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.266T>C MANE Select | ENSP00000426911.2:p.Phe89Ser | |
| ENST00000334830.11:c.275T>C | ENSP00000334611.7:p.Phe92Ser | |
| ENST00000396188.3:c.266T>C | ENSP00000379491.3:p.Phe89Ser | |
| ENST00000508048.5:c.266T>C | ENSP00000426911.2:p.Phe89Ser | |
| ENST00000513536.5:c.206T>C | ENSP00000427621.1:p.Phe69Ser | |
| NM_001114387.1:c.266T>C | NP_001107859.1:p.Phe89Ser | |
| NM_182606.3:c.275T>C | NP_872412.3:p.Phe92Ser | |
| NM_001114387.2:c.266T>C MANE Select | NP_001107859.1:p.Phe89Ser | |
| NM_182606.4:c.275T>C | NP_872412.3:p.Phe92Ser |