Linked Data
dbSNP Id:
rs2083279396
gnomAD v4:
22-50720863-C-T
MyVariant Identifiers:
chr22:g.51159291C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720863C>T , CM000684.2:g.50720863C>T | GRCh38 |
| NC_000022.10:g.51159291C>T , CM000684.1:g.51159291C>T | GRCh37 |
| NC_000022.9:g.49506157C>T | NCBI36 |
| NG_008607.2:g.51509C>T | |
| NG_070230.1:g.56647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2631C>T | ENSP00000489147.2:p.Gly877= | |
| ENST00000414786.7:n.3215C>T | ||
| ENST00000445220.7:c.1683C>T | ENSP00000489407.2:p.Gly561= | |
| ENST00000664402.2:c.1173C>T | ENSP00000499475.1:p.Gly391= | |
| ENST00000673971.2:c.*1629C>T | ENSP00000501192.1:n.*1629C>T | |
| ENST00000445220.6:c.1683C>T | ENSP00000489407.2:p.Gly561= | |
| ENST00000262795.6:c.2631C>T | ENSP00000489147.2:p.Gly877= | |
| ENST00000664402.1:c.1173C>T | ENSP00000499475.1:p.Gly391= | |
| ENST00000673971.1:c.*1629C>T | ENSP00000501192.1:n.*1629C>T | |
| ENST00000262795.5:c.3027C>T | ENSP00000489147.1:p.Gly1009= | |
| ENST00000414786.6:n.3215C>T | ||
| ENST00000445220.5:c.3009C>T | ENSP00000489407.1:p.Gly1003= |