Linked Data
dbSNP Id:
rs772152761
gnomAD v4:
22-50720722-G-A
MyVariant Identifiers:
chr22:g.51159150G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720722G>A , CM000684.2:g.50720722G>A | GRCh38 |
| NC_000022.10:g.51159150G>A , CM000684.1:g.51159150G>A | GRCh37 |
| NC_000022.9:g.49506016G>A | NCBI36 |
| NG_008607.2:g.51368G>A | |
| NG_070230.1:g.56506G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2490G>A | ENSP00000489147.2:p.Ala830= | |
| ENST00000414786.7:n.3074G>A | ||
| ENST00000445220.7:c.1542G>A | ENSP00000489407.2:p.Ala514= | |
| ENST00000664402.2:c.1032G>A | ENSP00000499475.1:p.Ala344= | |
| ENST00000673971.2:c.*1488G>A | ENSP00000501192.1:n.*1488G>A | |
| ENST00000445220.6:c.1542G>A | ENSP00000489407.2:p.Ala514= | |
| ENST00000262795.6:c.2490G>A | ENSP00000489147.2:p.Ala830= | |
| ENST00000664402.1:c.1032G>A | ENSP00000499475.1:p.Ala344= | |
| ENST00000673971.1:c.*1488G>A | ENSP00000501192.1:n.*1488G>A | |
| ENST00000262795.5:c.2886G>A | ENSP00000489147.1:p.Ala962= | |
| ENST00000414786.6:n.3074G>A | ||
| ENST00000445220.5:c.2868G>A | ENSP00000489407.1:p.Ala956= |