Linked Data
dbSNP Id:
rs2084174690
gnomAD v3:
22-45293308-C-T
gnomAD v4:
22-45293308-C-T
COSMIC:
COSM3912961
MyVariant Identifiers:
chr22:g.45689189C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293308C>T , CM000684.2:g.45293308C>T | GRCh38 |
| NC_000022.10:g.45689189C>T , CM000684.1:g.45689189C>T | GRCh37 |
| NC_000022.9:g.44067853C>T | NCBI36 |
| NG_016203.1:g.13322C>T | |
| NG_016203.2:g.13322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.699C>T MANE Select | ENSP00000216211.4:p.Ser233= | |
| ENST00000216211.8:c.699C>T | ENSP00000216211.4:p.Ser233= | |
| ENST00000396082.2:c.336C>T | ENSP00000379391.2:p.Ser112= | |
| NM_001167574.1:c.336C>T | NP_001161046.1:p.Ser112= | |
| NM_006953.3:c.699C>T | NP_008884.1:p.Ser233= | |
| XM_011530364.1:c.705C>T | XP_011528666.1:p.Ser235= | |
| XM_011530365.1:c.342C>T | XP_011528667.1:p.Ser114= | |
| NM_006953.4:c.699C>T MANE Select | NP_008884.1:p.Ser233= | |
| NM_001167574.2:c.336C>T | NP_001161046.1:p.Ser112= |