Linked Data
dbSNP Id:
rs371094674
ExAC:
22:51160509 C / A
gnomAD v2:
22-51160509-C-A
gnomAD v3:
22-50722081-C-A
gnomAD v4:
22-50722081-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50722081C>A , CM000684.2:g.50722081C>A | GRCh38 |
| NC_000022.10:g.51160509C>A , CM000684.1:g.51160509C>A | GRCh37 |
| NC_000022.9:g.49507375C>A | NCBI36 |
| NG_008607.2:g.52727C>A | |
| NG_070230.1:g.57865C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3849C>A | ENSP00000489147.2:p.Pro1283= | |
| ENST00000414786.7:n.4433C>A | ||
| ENST00000445220.7:c.2901C>A | ENSP00000489407.2:p.Pro967= | |
| ENST00000664402.2:c.2391C>A | ENSP00000499475.1:p.Pro797= | |
| ENST00000673971.2:c.*2847C>A | ENSP00000501192.1:n.*2847C>A | |
| ENST00000445220.6:c.2901C>A | ENSP00000489407.2:p.Pro967= | |
| ENST00000262795.6:c.3849C>A | ENSP00000489147.2:p.Pro1283= | |
| ENST00000664402.1:c.2391C>A | ENSP00000499475.1:p.Pro797= | |
| ENST00000673971.1:c.*2847C>A | ENSP00000501192.1:n.*2847C>A | |
| ENST00000262795.5:c.4245C>A | ENSP00000489147.1:p.Pro1415= | |
| ENST00000414786.6:n.4433C>A | ||
| ENST00000445220.5:c.4227C>A | ENSP00000489407.1:p.Pro1409= |