Linked Data
ClinVar Variation Id:
587951
dbSNP Id:
rs200572899
ExAC:
22:51159408 C / T
gnomAD v2:
22-51159408-C-T
gnomAD v3:
22-50720980-C-T
gnomAD v4:
22-50720980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720980C>T , CM000684.2:g.50720980C>T | GRCh38 |
| NC_000022.10:g.51159408C>T , CM000684.1:g.51159408C>T | GRCh37 |
| NC_000022.9:g.49506274C>T | NCBI36 |
| NG_008607.2:g.51626C>T | |
| NG_070230.1:g.56764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2748C>T | ENSP00000489147.2:p.Pro916= | |
| ENST00000414786.7:n.3332C>T | ||
| ENST00000445220.7:c.1800C>T | ENSP00000489407.2:p.Pro600= | |
| ENST00000664402.2:c.1290C>T | ENSP00000499475.1:p.Pro430= | |
| ENST00000673971.2:c.*1746C>T | ENSP00000501192.1:n.*1746C>T | |
| ENST00000445220.6:c.1800C>T | ENSP00000489407.2:p.Pro600= | |
| ENST00000262795.6:c.2748C>T | ENSP00000489147.2:p.Pro916= | |
| ENST00000664402.1:c.1290C>T | ENSP00000499475.1:p.Pro430= | |
| ENST00000673971.1:c.*1746C>T | ENSP00000501192.1:n.*1746C>T | |
| ENST00000262795.5:c.3144C>T | ENSP00000489147.1:p.Pro1048= | |
| ENST00000414786.6:n.3332C>T | ||
| ENST00000445220.5:c.3126C>T | ENSP00000489407.1:p.Pro1042= |