Linked Data
ClinVar Variation Id:
982870
ClinVar RCV Id:
RCV001262589
dbSNP Id:
rs746457760
gnomAD v4:
1-55059552-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059552G>C , CM000663.2:g.55059552G>C | GRCh38 |
| NC_000001.10:g.55525225G>C , CM000663.1:g.55525225G>C | GRCh37 |
| NC_000001.9:g.55297813G>C | NCBI36 |
| NG_009061.1:g.25006G>C , LRG_275:g.25006G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1570G>C | ENSP00000501161.2:p.Ala524Pro | |
| ENST00000710286.1:c.1927G>C | ENSP00000518176.1:p.Ala643Pro | |
| ENST00000673903.1:c.1195G>C | ENSP00000501257.1:p.Ala399Pro | |
| ENST00000673913.1:c.310G>C | ENSP00000501161.1:p.Ala104Pro | |
| ENST00000302118.5:c.1570G>C MANE Select | ENSP00000303208.5:p.Ala524Pro | |
| ENST00000490692.1:n.2227+905G>C | ||
| NM_174936.3:c.1570G>C , LRG_275t1:c.1570G>C | NP_777596.2:p.Ala524Pro | |
| NR_110451.1:n.1177G>C | ||
| XM_011541193.1:c.691G>C | XP_011539495.1:p.Ala231Pro | |
| NM_174936.4:c.1570G>C MANE Select | NP_777596.2:p.Ala524Pro | |
| NR_110451.2:n.1177G>C |