gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56319052 (NFE)
Genomes Max Group AF
0.61318814 (NFE)
Exomes Max Group AF
0.46822405 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168756335G>A , CM000666.2:g.168756335G>A | GRCh38 |
| NC_000004.11:g.169677486G>A , CM000666.1:g.169677486G>A | GRCh37 |
| NC_000004.10:g.169914061G>A | NCBI36 |
| NG_013376.1:g.264270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505667.6:c.1964+44412G>A (PALLD) MANE Select | ENSP00000425556.1:n.1964+44412G>A | |
| ENST00000649826.1:c.343+44412G>A (PALLD) | ||
| ENST00000261509.10:c.1964+44412G>A (PALLD) | ENSP00000261509.6:n.1964+44412G>A | |
| ENST00000491923.1:n.520G>A (RPL9P16) | ||
| ENST00000505667.5:c.1964+44412G>A (PALLD) | ENSP00000425556.1:n.1964+44412G>A | |
| ENST00000510998.5:c.-158+44061G>A (PALLD) | ENSP00000422135.1:n.-158+44061G>A | |
| ENST00000512127.5:c.818+44412G>A (PALLD) | ENSP00000426947.1:n.818+44412G>A | |
| NM_001166108.1:c.1964+44412G>A (PALLD) | NP_001159580.1:n.1964+44412G>A | |
| NM_001166109.1:c.818+44412G>A (PALLD) | NP_001159581.1:n.818+44412G>A | |
| NM_016081.3:c.1964+44412G>A (PALLD) | NP_057165.3:n.1964+44412G>A | |
| XM_005262861.3:c.1964+44412G>A (PALLD) | XP_005262918.1:n.1964+44412G>A | |
| XM_005262866.2:c.818+44412G>A (PALLD) | XP_005262923.1:n.818+44412G>A | |
| XM_011531768.1:c.2168+44412G>A (PALLD) | XP_011530070.1:n.2168+44412G>A | |
| XM_011531769.1:c.2168+44412G>A (PALLD) | XP_011530071.1:n.2168+44412G>A | |
| XM_011531770.1:c.2168+44412G>A (PALLD) | XP_011530072.1:n.2168+44412G>A | |
| XM_011531771.1:c.2168+44412G>A (PALLD) | XP_011530073.1:n.2168+44412G>A | |
| XM_011531772.1:c.2168+44412G>A (PALLD) | XP_011530074.1:n.2168+44412G>A | |
| XM_011531773.1:c.2168+44412G>A (PALLD) | XP_011530075.1:n.2168+44412G>A | |
| XM_011531774.1:c.2168+44412G>A (PALLD) | XP_011530076.1:n.2168+44412G>A | |
| XM_011531775.1:c.818+44412G>A (PALLD) | XP_011530077.1:n.818+44412G>A | |
| XM_011531776.1:c.818+44412G>A (PALLD) | XP_011530078.1:n.818+44412G>A | |
| XM_005262861.4:c.1964+44412G>A (PALLD) | XP_005262918.1:n.1964+44412G>A | |
| XM_011531768.2:c.2168+44412G>A (PALLD) | XP_011530070.1:n.2168+44412G>A | |
| XM_011531769.2:c.2168+44412G>A (PALLD) | XP_011530071.1:n.2168+44412G>A | |
| XM_011531770.2:c.2168+44412G>A (PALLD) | XP_011530072.1:n.2168+44412G>A | |
| XM_011531771.2:c.2168+44412G>A (PALLD) | XP_011530073.1:n.2168+44412G>A | |
| XM_011531772.2:c.2168+44412G>A (PALLD) | XP_011530074.1:n.2168+44412G>A | |
| XM_017007910.1:c.2168+44412G>A (PALLD) | XP_016863399.1:n.2168+44412G>A | |
| XM_024453939.1:c.818+44412G>A (PALLD) | XP_024309707.1:n.818+44412G>A | |
| NM_001166108.2:c.1964+44412G>A (PALLD) MANE Select | NP_001159580.1:n.1964+44412G>A | |
| NM_001166109.2:c.818+44412G>A (PALLD) | NP_001159581.1:n.818+44412G>A | |
| NM_016081.4:c.1964+44412G>A (PALLD) | NP_057165.3:n.1964+44412G>A |