Linked Data
dbSNP Id:
rs758337485
gnomAD v4:
22-50697579-G-T
MyVariant Identifiers:
chr22:g.51136007G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697579G>T , CM000684.2:g.50697579G>T | GRCh38 |
| NC_000022.10:g.51136007G>T , CM000684.1:g.51136007G>T | GRCh37 |
| NC_000022.9:g.49482873G>T | NCBI36 |
| NG_008607.2:g.28225G>T | |
| NG_070230.1:g.33444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.963G>T | ENSP00000489147.2:p.Ala321= | |
| ENST00000414786.7:n.1547G>T | ||
| ENST00000445220.7:c.15G>T | ENSP00000489407.2:p.Ala5= | |
| ENST00000673971.2:c.1320G>T | ENSP00000501192.1:p.Ala440= | |
| ENST00000445220.6:c.15G>T | ENSP00000489407.2:p.Ala5= | |
| ENST00000262795.6:c.963G>T | ENSP00000489147.2:p.Ala321= | |
| ENST00000673971.1:c.1320G>T | ENSP00000501192.1:p.Ala440= | |
| ENST00000673995.1:c.16G>T | ||
| ENST00000262795.5:c.1359G>T | ENSP00000489147.1:p.Ala453= | |
| ENST00000414786.6:n.1547G>T | ||
| ENST00000445220.5:c.1341G>T | ENSP00000489407.1:p.Ala447= |