Linked Data
ClinVar Variation Id:
310854
ClinVar RCV Id:
RCV000376359
dbSNP Id:
rs886049929
gnomAD v2:
13-101182536-G-A
gnomAD v3:
13-100530282-G-A
gnomAD v4:
13-100530282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530282G>A , CM000675.2:g.100530282G>A | GRCh38 |
| NC_000013.10:g.101182536G>A , CM000675.1:g.101182536G>A | GRCh37 |
| NC_000013.9:g.99980537G>A | NCBI36 |
| NG_008768.1:g.446200G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683975.1:c.*1848C>T (GGACT) MANE Select | ENSP00000508020.1:n.*1848C>T | |
| ENST00000376285.6:c.*116G>A (PCCA) MANE Select | ENSP00000365462.1:n.*116G>A | |
| ENST00000636366.1:c.1501G>A (PCCA) | ||
| ENST00000636475.1:c.1818G>A (PCCA) | ||
| ENST00000637657.1:c.1963G>A (PCCA) | ||
| ENST00000647303.1:c.*1787G>A (PCCA) | ENSP00000495663.1:n.*1787G>A | |
| ENST00000376250.6:c.*1848C>T (GGACT) | ENSP00000365426.1:n.*1848C>T | |
| ENST00000376279.7:c.*116G>A (PCCA) | ENSP00000365456.3:n.*116G>A | |
| ENST00000376285.5:c.*116G>A (PCCA) | ENSP00000365462.1:n.*116G>A | |
| ENST00000376286.8:c.*116G>A (PCCA) | ENSP00000365463.4:n.*116G>A | |
| ENST00000428969.1:c.452G>A (PCCA) | ENSP00000399413.1:n.452G>A | |
| ENST00000455100.2:c.*1848C>T (GGACT) | ENSP00000410449.1:n.*1848C>T | |
| ENST00000458283.5:c.519G>A (PCCA) | ||
| NM_000282.3:c.*116G>A (PCCA) | NP_000273.2:n.*116G>A | |
| NM_001127692.2:c.*116G>A (PCCA) | NP_001121164.1:n.*116G>A | |
| NM_001178004.1:c.*116G>A (PCCA) | NP_001171475.1:n.*116G>A | |
| NM_001195087.1:c.*1848C>T (GGACT) | NP_001182016.1:n.*1848C>T | |
| NM_033110.2:c.*1848C>T (GGACT) | NP_149101.1:n.*1848C>T | |
| XR_931615.1:n.2160G>A (PCCA) | ||
| NM_001352605.1:c.*116G>A (PCCA) | NP_001339534.1:n.*116G>A | |
| NM_001352606.1:c.*116G>A (PCCA) | NP_001339535.1:n.*116G>A | |
| NM_001352607.1:c.*116G>A (PCCA) | NP_001339536.1:n.*116G>A | |
| NM_001352608.1:c.*116G>A (PCCA) | NP_001339537.1:n.*116G>A | |
| NM_001352610.1:c.*116G>A (PCCA) | NP_001339539.1:n.*116G>A | |
| NM_001352611.1:c.*116G>A (PCCA) | NP_001339540.1:n.*116G>A | |
| NM_001352612.1:c.*116G>A (PCCA) | NP_001339541.1:n.*116G>A | |
| NR_148027.1:n.2352G>A (PCCA) | ||
| NR_148028.1:n.2390G>A (PCCA) | ||
| NR_148029.1:n.2312G>A (PCCA) | ||
| NR_148030.1:n.2493G>A (PCCA) | ||
| NR_148031.1:n.2306G>A (PCCA) | ||
| XM_005254083.2:c.*1848C>T (GGACT) | XP_005254140.1:n.*1848C>T | |
| XM_011521129.3:c.*1848C>T (GGACT) | XP_011519431.1:n.*1848C>T | |
| XM_017020609.1:c.*116G>A (PCCA) | XP_016876098.1:n.*116G>A | |
| XM_017020613.1:c.*231G>A (PCCA) | XP_016876102.1:n.*231G>A | |
| XR_001749567.1:n.2483G>A (PCCA) | ||
| XR_001749568.1:n.2570G>A (PCCA) | ||
| XR_001749569.1:n.2429G>A (PCCA) | ||
| XR_001749576.1:n.2040G>A (PCCA) | ||
| XR_001749577.1:n.1937G>A (PCCA) | ||
| NM_000282.4:c.*116G>A (PCCA) MANE Select | NP_000273.2:n.*116G>A | |
| NM_001352605.2:c.*116G>A (PCCA) | NP_001339534.1:n.*116G>A | |
| NM_001352606.2:c.*116G>A (PCCA) | NP_001339535.1:n.*116G>A | |
| NM_001352607.2:c.*116G>A (PCCA) | NP_001339536.1:n.*116G>A | |
| NM_001352608.2:c.*116G>A (PCCA) | NP_001339537.1:n.*116G>A | |
| NM_001352610.2:c.*116G>A (PCCA) | NP_001339539.1:n.*116G>A | |
| NM_001352611.2:c.*116G>A (PCCA) | NP_001339540.1:n.*116G>A | |
| NM_001352612.2:c.*116G>A (PCCA) | NP_001339541.1:n.*116G>A | |
| NR_148027.2:n.2274G>A (PCCA) | ||
| NR_148028.2:n.2312G>A (PCCA) | ||
| NR_148029.2:n.2234G>A (PCCA) | ||
| NR_148030.2:n.2415G>A (PCCA) | ||
| NR_148031.2:n.2228G>A (PCCA) | ||
| NM_001127692.3:c.*116G>A (PCCA) | NP_001121164.1:n.*116G>A | |
| NM_001178004.2:c.*116G>A (PCCA) | NP_001171475.1:n.*116G>A | |
| NM_001195087.2:c.*1848C>T (GGACT) MANE Select | NP_001182016.1:n.*1848C>T | |
| NM_033110.3:c.*1848C>T (GGACT) | NP_149101.1:n.*1848C>T |