Linked Data
ClinVar Variation Id:
3046003
ClinVar RCV Id:
RCV004542368
dbSNP Id:
rs1418594935
gnomAD v4:
22-50720905-C-T
MyVariant Identifiers:
chr22:g.51159333C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720905C>T , CM000684.2:g.50720905C>T | GRCh38 |
| NC_000022.10:g.51159333C>T , CM000684.1:g.51159333C>T | GRCh37 |
| NC_000022.9:g.49506199C>T | NCBI36 |
| NG_008607.2:g.51551C>T | |
| NG_070230.1:g.56689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2673C>T | ENSP00000489147.2:p.Arg891= | |
| ENST00000414786.7:n.3257C>T | ||
| ENST00000445220.7:c.1725C>T | ENSP00000489407.2:p.Arg575= | |
| ENST00000664402.2:c.1215C>T | ENSP00000499475.1:p.Arg405= | |
| ENST00000673971.2:c.*1671C>T | ENSP00000501192.1:n.*1671C>T | |
| ENST00000445220.6:c.1725C>T | ENSP00000489407.2:p.Arg575= | |
| ENST00000262795.6:c.2673C>T | ENSP00000489147.2:p.Arg891= | |
| ENST00000664402.1:c.1215C>T | ENSP00000499475.1:p.Arg405= | |
| ENST00000673971.1:c.*1671C>T | ENSP00000501192.1:n.*1671C>T | |
| ENST00000262795.5:c.3069C>T | ENSP00000489147.1:p.Arg1023= | |
| ENST00000414786.6:n.3257C>T | ||
| ENST00000445220.5:c.3051C>T | ENSP00000489407.1:p.Arg1017= |