Linked Data
ClinVar Variation Id:
1012027
ClinVar RCV Id:
RCV001309919
dbSNP Id:
rs1752556458
gnomAD v4:
5-132387056-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387056T>C , CM000667.2:g.132387056T>C | GRCh38 |
| NC_000005.9:g.131722748T>C , CM000667.1:g.131722748T>C | GRCh37 |
| NC_000005.8:g.131750647T>C | NCBI36 |
| NG_008982.1:g.22348T>C | |
| NG_008982.2:g.22353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.697T>C | ENSP00000388838.2:p.Ser233Pro | |
| ENST00000435065.7:c.928T>C | ENSP00000402760.2:p.Ser310Pro | |
| ENST00000448810.6:c.856T>C | ENSP00000401860.2:p.Ser286Pro | |
| ENST00000686757.1:c.*20T>C | ENSP00000510721.1:n.*20T>C | |
| ENST00000687740.1:n.3541T>C | ||
| ENST00000688151.1:n.2166T>C | ||
| ENST00000689271.1:c.703T>C | ENSP00000510797.1:p.Ser235Pro | |
| ENST00000690900.1:c.*20T>C | ENSP00000510703.1:n.*20T>C | |
| ENST00000692212.1:n.800T>C | ||
| ENST00000692355.1:c.205-1865T>C | ||
| ENST00000692413.1:c.844-6T>C | ENSP00000509374.1:n.844-6T>C | |
| ENST00000692825.1:c.924T>C | ENSP00000509447.1:n.924T>C | |
| ENST00000693308.1:c.904T>C | ENSP00000509770.1:p.Ser302Pro | |
| ENST00000693763.1:n.2016T>C | ||
| ENST00000245407.8:c.856T>C MANE Select | ENSP00000245407.3:p.Ser286Pro | |
| ENST00000245407.7:c.856T>C | ENSP00000245407.3:p.Ser286Pro | |
| ENST00000415928.5:c.625T>C | ENSP00000388838.1:p.Ser209Pro | |
| ENST00000435065.6:c.928T>C | ENSP00000402760.2:p.Ser310Pro | |
| ENST00000437841.6:c.*171T>C | ENSP00000400553.1:n.*171T>C | |
| ENST00000448810.5:c.204T>C | ||
| ENST00000461013.5:n.8278T>C | ||
| NM_001308122.1:c.928T>C | NP_001295051.1:p.Ser310Pro | |
| NM_003060.3:c.856T>C | NP_003051.1:p.Ser286Pro | |
| XM_011543590.1:c.238T>C | XP_011541892.1:p.Ser80Pro | |
| XR_427718.1:n.1216T>C | ||
| XR_948290.1:n.1197T>C | ||
| XR_948291.1:n.1210T>C | ||
| XM_011543590.2:c.238T>C | XP_011541892.1:p.Ser80Pro | |
| XM_017009778.2:c.328T>C | XP_016865267.1:p.Ser110Pro | |
| XR_001742215.1:n.1197T>C | ||
| XR_001742216.1:n.1216T>C | ||
| XR_427718.2:n.1216T>C | ||
| XR_948290.2:n.1197T>C | ||
| XR_948291.2:n.1210T>C | ||
| NM_003060.4:c.856T>C MANE Select | NP_003051.1:p.Ser286Pro | |
| NM_001308122.2:c.928T>C | NP_001295051.1:p.Ser310Pro |