Linked Data
ClinVar Variation Id:
691485
ClinVar RCV Id:
RCV000984791
dbSNP Id:
rs1589296239
gnomAD v4:
10-69005085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69005085C>T , CM000672.2:g.69005085C>T | GRCh38 |
| NC_000010.10:g.70764841C>T , CM000672.1:g.70764841C>T | GRCh37 |
| NC_000010.9:g.70434847C>T | NCBI36 |
| NG_017061.1:g.21365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.565C>T MANE Select | ENSP00000354848.4:p.Pro189Ser | |
| ENST00000625461.2:n.595C>T | ||
| ENST00000626493.2:c.565C>T | ENSP00000486692.1:p.Pro189Ser | |
| ENST00000635779.2:c.565C>T | ENSP00000489663.1:p.Pro189Ser | |
| ENST00000635971.2:c.565C>T | ENSP00000489878.2:p.Pro189Ser | |
| ENST00000636200.2:c.565C>T | ENSP00000490113.2:p.Pro189Ser | |
| ENST00000637101.2:c.*138C>T | ENSP00000490704.1:n.*138C>T | |
| ENST00000637104.2:c.*134C>T | ENSP00000490019.2:n.*134C>T | |
| ENST00000637323.2:c.*206C>T | ENSP00000489659.2:n.*206C>T | |
| ENST00000637420.2:c.565C>T | ENSP00000490404.2:p.Pro189Ser | |
| ENST00000637738.2:c.565C>T | ENSP00000490742.2:p.Pro189Ser | |
| ENST00000638119.2:c.640C>T | ENSP00000490026.1:p.Pro214Ser | |
| ENST00000674660.1:c.526-12C>T | ENSP00000502562.1:n.526-12C>T | |
| ENST00000674688.1:n.595C>T | ||
| ENST00000674897.1:c.49C>T | ENSP00000502225.1:p.Pro17Ser | |
| ENST00000674936.1:c.565C>T | ENSP00000502484.1:p.Pro189Ser | |
| ENST00000675576.1:c.466C>T | ENSP00000502750.1:p.Pro156Ser | |
| ENST00000676080.1:c.*78C>T | ENSP00000502706.1:n.*78C>T | |
| ENST00000361983.6:c.565C>T | ENSP00000354848.4:p.Pro189Ser | |
| ENST00000625461.1:n.281C>T | ||
| ENST00000626493.1:c.565C>T | ENSP00000486692.1:p.Pro189Ser | |
| NM_015634.3:c.565C>T | NP_056449.1:p.Pro189Ser | |
| NM_015634.4:c.565C>T MANE Select | NP_056449.1:p.Pro189Ser |