Linked Data
dbSNP Id:
rs771320826
ExAC:
13:101182432 C / T
gnomAD v3:
13-100530178-C-T
gnomAD v4:
13-100530178-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530178C>T , CM000675.2:g.100530178C>T | GRCh38 |
| NC_000013.10:g.101182432C>T , CM000675.1:g.101182432C>T | GRCh37 |
| NC_000013.9:g.99980433C>T | NCBI36 |
| NG_008768.1:g.446096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.*12C>T (PCCA) MANE Select | ENSP00000365462.1:n.*12C>T | |
| ENST00000636366.1:c.1397C>T (PCCA) | ||
| ENST00000636475.1:c.1714C>T (PCCA) | ||
| ENST00000637657.1:c.1859C>T (PCCA) | ||
| ENST00000647303.1:c.*1683C>T (PCCA) | ENSP00000495663.1:n.*1683C>T | |
| ENST00000376279.7:c.*12C>T (PCCA) | ENSP00000365456.3:n.*12C>T | |
| ENST00000376285.5:c.*12C>T (PCCA) | ENSP00000365462.1:n.*12C>T | |
| ENST00000376286.8:c.*12C>T (PCCA) | ENSP00000365463.4:n.*12C>T | |
| ENST00000428969.1:c.348C>T (PCCA) | ENSP00000399413.1:n.348C>T | |
| ENST00000455100.2:c.*1952G>A (GGACT) | ENSP00000410449.1:n.*1952G>A | |
| ENST00000458283.5:c.415C>T (PCCA) | ||
| NM_000282.3:c.*12C>T (PCCA) | NP_000273.2:n.*12C>T | |
| NM_001127692.2:c.*12C>T (PCCA) | NP_001121164.1:n.*12C>T | |
| NM_001178004.1:c.*12C>T (PCCA) | NP_001171475.1:n.*12C>T | |
| NM_001195087.1:c.*1952G>A (GGACT) | NP_001182016.1:n.*1952G>A | |
| NM_033110.2:c.*1952G>A (GGACT) | NP_149101.1:n.*1952G>A | |
| XR_931615.1:n.2056C>T (PCCA) | ||
| NM_001352605.1:c.*12C>T (PCCA) | NP_001339534.1:n.*12C>T | |
| NM_001352606.1:c.*12C>T (PCCA) | NP_001339535.1:n.*12C>T | |
| NM_001352607.1:c.*12C>T (PCCA) | NP_001339536.1:n.*12C>T | |
| NM_001352608.1:c.*12C>T (PCCA) | NP_001339537.1:n.*12C>T | |
| NM_001352610.1:c.*12C>T (PCCA) | NP_001339539.1:n.*12C>T | |
| NM_001352611.1:c.*12C>T (PCCA) | NP_001339540.1:n.*12C>T | |
| NM_001352612.1:c.*12C>T (PCCA) | NP_001339541.1:n.*12C>T | |
| NR_148027.1:n.2248C>T (PCCA) | ||
| NR_148028.1:n.2286C>T (PCCA) | ||
| NR_148029.1:n.2208C>T (PCCA) | ||
| NR_148030.1:n.2389C>T (PCCA) | ||
| NR_148031.1:n.2202C>T (PCCA) | ||
| XM_017020609.1:c.*12C>T (PCCA) | XP_016876098.1:n.*12C>T | |
| XM_017020613.1:c.*127C>T (PCCA) | XP_016876102.1:n.*127C>T | |
| XR_001749567.1:n.2379C>T (PCCA) | ||
| XR_001749568.1:n.2466C>T (PCCA) | ||
| XR_001749569.1:n.2325C>T (PCCA) | ||
| XR_001749576.1:n.1936C>T (PCCA) | ||
| XR_001749577.1:n.1833C>T (PCCA) | ||
| NM_000282.4:c.*12C>T (PCCA) MANE Select | NP_000273.2:n.*12C>T | |
| NM_001352605.2:c.*12C>T (PCCA) | NP_001339534.1:n.*12C>T | |
| NM_001352606.2:c.*12C>T (PCCA) | NP_001339535.1:n.*12C>T | |
| NM_001352607.2:c.*12C>T (PCCA) | NP_001339536.1:n.*12C>T | |
| NM_001352608.2:c.*12C>T (PCCA) | NP_001339537.1:n.*12C>T | |
| NM_001352610.2:c.*12C>T (PCCA) | NP_001339539.1:n.*12C>T | |
| NM_001352611.2:c.*12C>T (PCCA) | NP_001339540.1:n.*12C>T | |
| NM_001352612.2:c.*12C>T (PCCA) | NP_001339541.1:n.*12C>T | |
| NR_148027.2:n.2170C>T (PCCA) | ||
| NR_148028.2:n.2208C>T (PCCA) | ||
| NR_148029.2:n.2130C>T (PCCA) | ||
| NR_148030.2:n.2311C>T (PCCA) | ||
| NR_148031.2:n.2124C>T (PCCA) | ||
| NM_001127692.3:c.*12C>T (PCCA) | NP_001121164.1:n.*12C>T | |
| NM_001178004.2:c.*12C>T (PCCA) | NP_001171475.1:n.*12C>T |