Linked Data
dbSNP Id:
rs1243876516
gnomAD v4:
22-50720458-G-T
MyVariant Identifiers:
chr22:g.51158886G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720458G>T , CM000684.2:g.50720458G>T | GRCh38 |
| NC_000022.10:g.51158886G>T , CM000684.1:g.51158886G>T | GRCh37 |
| NC_000022.9:g.49505752G>T | NCBI36 |
| NG_008607.2:g.51104G>T | |
| NG_070230.1:g.56242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2226G>T | ENSP00000489147.2:p.Ala742= | |
| ENST00000414786.7:n.2810G>T | ||
| ENST00000445220.7:c.1278G>T | ENSP00000489407.2:p.Ala426= | |
| ENST00000664402.2:c.768G>T | ENSP00000499475.1:p.Ala256= | |
| ENST00000673971.2:c.*1224G>T | ENSP00000501192.1:n.*1224G>T | |
| ENST00000445220.6:c.1278G>T | ENSP00000489407.2:p.Ala426= | |
| ENST00000262795.6:c.2226G>T | ENSP00000489147.2:p.Ala742= | |
| ENST00000664402.1:c.768G>T | ENSP00000499475.1:p.Ala256= | |
| ENST00000673971.1:c.*1224G>T | ENSP00000501192.1:n.*1224G>T | |
| ENST00000262795.5:c.2622G>T | ENSP00000489147.1:p.Ala874= | |
| ENST00000414786.6:n.2810G>T | ||
| ENST00000445220.5:c.2604G>T | ENSP00000489407.1:p.Ala868= |