Linked Data
ClinVar Variation Id:
436825
dbSNP Id:
rs141934766
ExAC:
22:21241976 C / T
gnomAD v2:
22-21241976-C-T
gnomAD v3:
22-20887688-C-T
gnomAD v4:
22-20887688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20887688C>T , CM000684.2:g.20887688C>T | GRCh38 |
| NC_000022.10:g.21241976C>T , CM000684.1:g.21241976C>T | GRCh37 |
| NC_000022.9:g.19571976C>T | NCBI36 |
| NG_012152.1:g.33685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.629C>T MANE Select | ENSP00000215730.6:p.Ser210Phe | |
| ENST00000215730.11:c.629C>T | ENSP00000215730.6:p.Ser210Phe | |
| ENST00000439214.1:c.350C>T | ENSP00000411095.1:p.Ser117Phe | |
| NM_004782.3:c.629C>T | NP_004773.1:p.Ser210Phe | |
| NM_004782.4:c.629C>T MANE Select | NP_004773.1:p.Ser210Phe |