Linked Data
ClinVar Variation Id:
2572
dbSNP Id:
rs121908291
ExAC:
4:169799457 C / T
gnomAD v2:
4-169799457-C-T
gnomAD v3:
4-168878306-C-T
gnomAD v4:
4-168878306-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168878306C>T , CM000666.2:g.168878306C>T | GRCh38 |
| NC_000004.11:g.169799457C>T , CM000666.1:g.169799457C>T | GRCh37 |
| NC_000004.10:g.170036032C>T | NCBI36 |
| NG_013376.1:g.386241C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704822.1:c.-157-12616C>T (PALLD) | ENSP00000516055.1:n.-157-12616C>T | |
| ENST00000505667.6:c.1965-12616C>T (PALLD) MANE Select | ENSP00000425556.1:n.1965-12616C>T | |
| ENST00000507735.6:c.415C>T (PALLD) | ENSP00000424016.1:p.Pro139Ser | |
| ENST00000649826.1:c.927C>T (PALLD) | ||
| ENST00000261509.10:c.1965-12616C>T (PALLD) | ENSP00000261509.6:n.1965-12616C>T | |
| ENST00000393726.7:c.-157-12616C>T (PALLD) | ENSP00000377327.3:n.-157-12616C>T | |
| ENST00000505667.5:c.1965-12616C>T (PALLD) | ENSP00000425556.1:n.1965-12616C>T | |
| ENST00000507735.5:c.415C>T (PALLD) | ENSP00000424016.1:p.Pro139Ser | |
| ENST00000509108.1:n.366-14333G>A (CBR4) | ||
| ENST00000510042.5:c.*455-13720G>A (CBR4) | ENSP00000424717.1:n.*455-13720G>A | |
| ENST00000510998.5:c.-157-12616C>T (PALLD) | ENSP00000422135.1:n.-157-12616C>T | |
| ENST00000512127.5:c.819-12616C>T (PALLD) | ENSP00000426947.1:n.819-12616C>T | |
| NM_001166108.1:c.1965-12616C>T (PALLD) | NP_001159580.1:n.1965-12616C>T | |
| NM_001166109.1:c.819-12616C>T (PALLD) | NP_001159581.1:n.819-12616C>T | |
| NM_001166110.1:c.415C>T (PALLD) | NP_001159582.1:p.Pro139Ser | |
| NM_016081.3:c.1965-12616C>T (PALLD) | NP_057165.3:n.1965-12616C>T | |
| XM_005262861.3:c.2548C>T (PALLD) | XP_005262918.1:p.Pro850Ser | |
| XM_005262866.2:c.1402C>T (PALLD) | XP_005262923.1:p.Pro468Ser | |
| XM_011531768.1:c.2752C>T (PALLD) | XP_011530070.1:p.Pro918Ser | |
| XM_011531769.1:c.2752C>T (PALLD) | XP_011530071.1:p.Pro918Ser | |
| XM_011531770.1:c.2752C>T (PALLD) | XP_011530072.1:p.Pro918Ser | |
| XM_011531771.1:c.2752C>T (PALLD) | XP_011530073.1:p.Pro918Ser | |
| XM_011531772.1:c.2752C>T (PALLD) | XP_011530074.1:p.Pro918Ser | |
| XM_011531773.1:c.2169-12616C>T (PALLD) | XP_011530075.1:n.2169-12616C>T | |
| XM_011531774.1:c.2169-12616C>T (PALLD) | XP_011530076.1:n.2169-12616C>T | |
| XM_011531775.1:c.1402C>T (PALLD) | XP_011530077.1:p.Pro468Ser | |
| XM_011531776.1:c.1402C>T (PALLD) | XP_011530078.1:p.Pro468Ser | |
| XM_005262861.4:c.2548C>T (PALLD) | XP_005262918.1:p.Pro850Ser | |
| XM_011531768.2:c.2752C>T (PALLD) | XP_011530070.1:p.Pro918Ser | |
| XM_011531769.2:c.2752C>T (PALLD) | XP_011530071.1:p.Pro918Ser | |
| XM_011531770.2:c.2752C>T (PALLD) | XP_011530072.1:p.Pro918Ser | |
| XM_011531771.2:c.2752C>T (PALLD) | XP_011530073.1:p.Pro918Ser | |
| XM_011531772.2:c.2752C>T (PALLD) | XP_011530074.1:p.Pro918Ser | |
| XM_017007910.1:c.2752C>T (PALLD) | XP_016863399.1:p.Pro918Ser | |
| XM_024453939.1:c.1402C>T (PALLD) | XP_024309707.1:p.Pro468Ser | |
| XM_024453940.1:c.415C>T (PALLD) | XP_024309708.1:p.Pro139Ser | |
| NM_001166108.2:c.1965-12616C>T (PALLD) MANE Select | NP_001159580.1:n.1965-12616C>T | |
| NM_001367567.1:c.-157-12616C>T (PALLD) | NP_001354496.1:n.-157-12616C>T | |
| NM_001367568.1:c.-157-12616C>T (PALLD) | NP_001354497.1:n.-157-12616C>T | |
| NM_001367569.1:c.-157-12616C>T (PALLD) | NP_001354498.1:n.-157-12616C>T | |
| NM_001367570.1:c.-157-12616C>T (PALLD) | NP_001354499.1:n.-157-12616C>T | |
| NM_001166109.2:c.819-12616C>T (PALLD) | NP_001159581.1:n.819-12616C>T | |
| NM_001166110.2:c.415C>T (PALLD) | NP_001159582.1:p.Pro139Ser | |
| NM_016081.4:c.1965-12616C>T (PALLD) | NP_057165.3:n.1965-12616C>T |