Linked Data
ClinVar Variation Id:
6545
ClinVar RCV Id:
RCV000006920
dbSNP Id:
rs121908846
PubMed:
PMID:12766194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189890874T>C , CM000665.2:g.189890874T>C | GRCh38 |
| NC_000003.11:g.189608663T>C , CM000665.1:g.189608663T>C | GRCh37 |
| NC_000003.10:g.191091357T>C | NCBI36 |
| NG_007550.1:g.264448T>C | |
| NG_007550.2:g.264448T>C | |
| NG_007550.3:g.299129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.1738T>C MANE Select | ENSP00000264731.3:p.Ser580Pro | |
| ENST00000354600.10:c.1456T>C MANE Plus Clinical | ENSP00000346614.5:p.Ser486Pro | |
| ENST00000264731.7:c.1738T>C | ENSP00000264731.3:p.Ser580Pro | |
| ENST00000320472.9:c.1508-3332T>C | ENSP00000317510.5:n.1508-3332T>C | |
| ENST00000354600.9:c.1456T>C | ENSP00000346614.5:p.Ser486Pro | |
| ENST00000392460.7:c.1652+1390T>C | ENSP00000376253.3:n.1652+1390T>C | |
| ENST00000392461.7:c.1226-3332T>C | ENSP00000376254.3:n.1226-3332T>C | |
| ENST00000392463.6:c.1370+1390T>C | ENSP00000376256.2:n.1370+1390T>C | |
| ENST00000440651.6:c.1726T>C | ENSP00000394337.2:p.Ser576Pro | |
| ENST00000449992.5:c.1201T>C | ENSP00000387839.1:p.Ser401Pro | |
| ENST00000456148.1:c.1444T>C | ENSP00000389485.1:p.Ser482Pro | |
| NM_001114978.1:c.1652+1390T>C | NP_001108450.1:n.1652+1390T>C | |
| NM_001114980.1:c.1456T>C | NP_001108452.1:p.Ser486Pro | |
| NM_001114981.1:c.1370+1390T>C | NP_001108453.1:n.1370+1390T>C | |
| NM_003722.4:c.1738T>C | NP_003713.3:p.Ser580Pro | |
| XM_005247843.2:c.1726T>C | XP_005247900.1:p.Ser576Pro | |
| XM_005247844.3:c.1687T>C | XP_005247901.1:p.Ser563Pro | |
| XM_011513251.1:c.1735T>C | XP_011511553.1:p.Ser579Pro | |
| XM_011513252.1:c.1732T>C | XP_011511554.1:p.Ser578Pro | |
| XM_011513253.1:c.1699T>C | XP_011511555.1:p.Ser567Pro | |
| NM_001329144.1:c.1508-3332T>C | NP_001316073.1:n.1508-3332T>C | |
| NM_001329145.1:c.1226-3332T>C | NP_001316074.1:n.1226-3332T>C | |
| NM_001329146.1:c.1201T>C | NP_001316075.1:p.Ser401Pro | |
| NM_001329148.1:c.1726T>C | NP_001316077.1:p.Ser576Pro | |
| NM_001329149.1:c.1214-3332T>C | NP_001316078.1:n.1214-3332T>C | |
| NM_001329150.1:c.959-3332T>C | NP_001316079.1:n.959-3332T>C | |
| NM_001329964.1:c.1732T>C | NP_001316893.1:p.Ser578Pro | |
| NM_003722.5:c.1738T>C MANE Select | NP_003713.3:p.Ser580Pro | |
| NM_001114978.2:c.1652+1390T>C | NP_001108450.1:n.1652+1390T>C | |
| NM_001114980.2:c.1456T>C MANE Plus Clinical | NP_001108452.1:p.Ser486Pro | |
| NM_001114981.2:c.1370+1390T>C | NP_001108453.1:n.1370+1390T>C | |
| NM_001329144.2:c.1508-3332T>C | NP_001316073.1:n.1508-3332T>C | |
| NM_001329145.2:c.1226-3332T>C | NP_001316074.1:n.1226-3332T>C | |
| NM_001329146.2:c.1201T>C | NP_001316075.1:p.Ser401Pro | |
| NM_001329148.2:c.1726T>C | NP_001316077.1:p.Ser576Pro | |
| NM_001329149.2:c.1214-3332T>C | NP_001316078.1:n.1214-3332T>C | |
| NM_001329150.2:c.959-3332T>C | NP_001316079.1:n.959-3332T>C | |
| NM_001329964.2:c.1732T>C | NP_001316893.1:p.Ser578Pro |