Linked Data
ClinVar Variation Id:
2193205
ClinVar RCV Id:
RCV002607867
dbSNP Id:
rs1020666894
gnomAD v3:
1-12244312-C-T
gnomAD v4:
1-12244312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12244312C>T , CM000663.2:g.12244312C>T | GRCh38 |
| NC_000001.10:g.12304369C>T , CM000663.1:g.12304369C>T | GRCh37 |
| NC_000001.9:g.12226956C>T | NCBI36 |
| NG_056877.1:g.19274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.242C>T MANE Select | ENSP00000478104.1:p.Ser81Phe | |
| ENST00000613099.4:c.242C>T | ENSP00000482233.1:p.Ser81Phe | |
| ENST00000620676.4:c.242C>T | ENSP00000478104.1:p.Ser81Phe | |
| NM_015378.3:c.242C>T | NP_056193.2:p.Ser81Phe | |
| NM_018156.3:c.242C>T | NP_060626.2:p.Ser81Phe | |
| NM_015378.4:c.242C>T MANE Select | NP_056193.2:p.Ser81Phe | |
| NM_018156.4:c.242C>T | NP_060626.2:p.Ser81Phe |