Linked Data
dbSNP Id:
rs2146798994
gnomAD v3:
22-50697600-G-C
gnomAD v4:
22-50697600-G-C
MyVariant Identifiers:
chr22:g.51136028G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697600G>C , CM000684.2:g.50697600G>C | GRCh38 |
| NC_000022.10:g.51136028G>C , CM000684.1:g.51136028G>C | GRCh37 |
| NC_000022.9:g.49482894G>C | NCBI36 |
| NG_008607.2:g.28246G>C | |
| NG_070230.1:g.33465G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.984G>C | ENSP00000489147.2:p.Arg328= | |
| ENST00000414786.7:n.1568G>C | ||
| ENST00000445220.7:c.36G>C | ENSP00000489407.2:p.Arg12= | |
| ENST00000673971.2:c.1341G>C | ENSP00000501192.1:p.Arg447= | |
| ENST00000445220.6:c.36G>C | ENSP00000489407.2:p.Arg12= | |
| ENST00000262795.6:c.984G>C | ENSP00000489147.2:p.Arg328= | |
| ENST00000673971.1:c.1341G>C | ENSP00000501192.1:p.Arg447= | |
| ENST00000673995.1:c.37G>C | ||
| ENST00000262795.5:c.1380G>C | ENSP00000489147.1:p.Arg460= | |
| ENST00000414786.6:n.1568G>C | ||
| ENST00000445220.5:c.1362G>C | ENSP00000489407.1:p.Arg454= |