Linked Data
ClinVar Variation Id:
884190
ClinVar RCV Id:
RCV001115146
dbSNP Id:
rs2088307404
gnomAD v4:
13-100530257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530257A>G , CM000675.2:g.100530257A>G | GRCh38 |
| NC_000013.10:g.101182511A>G , CM000675.1:g.101182511A>G | GRCh37 |
| NC_000013.9:g.99980512A>G | NCBI36 |
| NG_008768.1:g.446175A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683975.1:c.*1873T>C (GGACT) MANE Select | ENSP00000508020.1:n.*1873T>C | |
| ENST00000376285.6:c.*91A>G (PCCA) MANE Select | ENSP00000365462.1:n.*91A>G | |
| ENST00000636366.1:c.1476A>G (PCCA) | ||
| ENST00000636475.1:c.1793A>G (PCCA) | ||
| ENST00000637657.1:c.1938A>G (PCCA) | ||
| ENST00000647303.1:c.*1762A>G (PCCA) | ENSP00000495663.1:n.*1762A>G | |
| ENST00000376250.6:c.*1873T>C (GGACT) | ENSP00000365426.1:n.*1873T>C | |
| ENST00000376279.7:c.*91A>G (PCCA) | ENSP00000365456.3:n.*91A>G | |
| ENST00000376285.5:c.*91A>G (PCCA) | ENSP00000365462.1:n.*91A>G | |
| ENST00000376286.8:c.*91A>G (PCCA) | ENSP00000365463.4:n.*91A>G | |
| ENST00000428969.1:c.427A>G (PCCA) | ENSP00000399413.1:n.427A>G | |
| ENST00000455100.2:c.*1873T>C (GGACT) | ENSP00000410449.1:n.*1873T>C | |
| ENST00000458283.5:c.494A>G (PCCA) | ||
| NM_000282.3:c.*91A>G (PCCA) | NP_000273.2:n.*91A>G | |
| NM_001127692.2:c.*91A>G (PCCA) | NP_001121164.1:n.*91A>G | |
| NM_001178004.1:c.*91A>G (PCCA) | NP_001171475.1:n.*91A>G | |
| NM_001195087.1:c.*1873T>C (GGACT) | NP_001182016.1:n.*1873T>C | |
| NM_033110.2:c.*1873T>C (GGACT) | NP_149101.1:n.*1873T>C | |
| XR_931615.1:n.2135A>G (PCCA) | ||
| NM_001352605.1:c.*91A>G (PCCA) | NP_001339534.1:n.*91A>G | |
| NM_001352606.1:c.*91A>G (PCCA) | NP_001339535.1:n.*91A>G | |
| NM_001352607.1:c.*91A>G (PCCA) | NP_001339536.1:n.*91A>G | |
| NM_001352608.1:c.*91A>G (PCCA) | NP_001339537.1:n.*91A>G | |
| NM_001352610.1:c.*91A>G (PCCA) | NP_001339539.1:n.*91A>G | |
| NM_001352611.1:c.*91A>G (PCCA) | NP_001339540.1:n.*91A>G | |
| NM_001352612.1:c.*91A>G (PCCA) | NP_001339541.1:n.*91A>G | |
| NR_148027.1:n.2327A>G (PCCA) | ||
| NR_148028.1:n.2365A>G (PCCA) | ||
| NR_148029.1:n.2287A>G (PCCA) | ||
| NR_148030.1:n.2468A>G (PCCA) | ||
| NR_148031.1:n.2281A>G (PCCA) | ||
| XM_005254083.2:c.*1873T>C (GGACT) | XP_005254140.1:n.*1873T>C | |
| XM_011521129.3:c.*1873T>C (GGACT) | XP_011519431.1:n.*1873T>C | |
| XM_017020609.1:c.*91A>G (PCCA) | XP_016876098.1:n.*91A>G | |
| XM_017020613.1:c.*206A>G (PCCA) | XP_016876102.1:n.*206A>G | |
| XR_001749567.1:n.2458A>G (PCCA) | ||
| XR_001749568.1:n.2545A>G (PCCA) | ||
| XR_001749569.1:n.2404A>G (PCCA) | ||
| XR_001749576.1:n.2015A>G (PCCA) | ||
| XR_001749577.1:n.1912A>G (PCCA) | ||
| NM_000282.4:c.*91A>G (PCCA) MANE Select | NP_000273.2:n.*91A>G | |
| NM_001352605.2:c.*91A>G (PCCA) | NP_001339534.1:n.*91A>G | |
| NM_001352606.2:c.*91A>G (PCCA) | NP_001339535.1:n.*91A>G | |
| NM_001352607.2:c.*91A>G (PCCA) | NP_001339536.1:n.*91A>G | |
| NM_001352608.2:c.*91A>G (PCCA) | NP_001339537.1:n.*91A>G | |
| NM_001352610.2:c.*91A>G (PCCA) | NP_001339539.1:n.*91A>G | |
| NM_001352611.2:c.*91A>G (PCCA) | NP_001339540.1:n.*91A>G | |
| NM_001352612.2:c.*91A>G (PCCA) | NP_001339541.1:n.*91A>G | |
| NR_148027.2:n.2249A>G (PCCA) | ||
| NR_148028.2:n.2287A>G (PCCA) | ||
| NR_148029.2:n.2209A>G (PCCA) | ||
| NR_148030.2:n.2390A>G (PCCA) | ||
| NR_148031.2:n.2203A>G (PCCA) | ||
| NM_001127692.3:c.*91A>G (PCCA) | NP_001121164.1:n.*91A>G | |
| NM_001178004.2:c.*91A>G (PCCA) | NP_001171475.1:n.*91A>G | |
| NM_001195087.2:c.*1873T>C (GGACT) MANE Select | NP_001182016.1:n.*1873T>C | |
| NM_033110.3:c.*1873T>C (GGACT) | NP_149101.1:n.*1873T>C |