Linked Data
dbSNP Id:
rs1228083347
gnomAD v4:
22-50720755-C-T
MyVariant Identifiers:
chr22:g.51159183C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720755C>T , CM000684.2:g.50720755C>T | GRCh38 |
| NC_000022.10:g.51159183C>T , CM000684.1:g.51159183C>T | GRCh37 |
| NC_000022.9:g.49506049C>T | NCBI36 |
| NG_008607.2:g.51401C>T | |
| NG_070230.1:g.56539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2523C>T | ENSP00000489147.2:p.Pro841= | |
| ENST00000414786.7:n.3107C>T | ||
| ENST00000445220.7:c.1575C>T | ENSP00000489407.2:p.Pro525= | |
| ENST00000664402.2:c.1065C>T | ENSP00000499475.1:p.Pro355= | |
| ENST00000673971.2:c.*1521C>T | ENSP00000501192.1:n.*1521C>T | |
| ENST00000445220.6:c.1575C>T | ENSP00000489407.2:p.Pro525= | |
| ENST00000262795.6:c.2523C>T | ENSP00000489147.2:p.Pro841= | |
| ENST00000664402.1:c.1065C>T | ENSP00000499475.1:p.Pro355= | |
| ENST00000673971.1:c.*1521C>T | ENSP00000501192.1:n.*1521C>T | |
| ENST00000262795.5:c.2919C>T | ENSP00000489147.1:p.Pro973= | |
| ENST00000414786.6:n.3107C>T | ||
| ENST00000445220.5:c.2901C>T | ENSP00000489407.1:p.Pro967= |