Linked Data
ClinVar Variation Id:
2145636
ClinVar RCV Id:
RCV003074152
dbSNP Id:
rs780454598
ExAC:
19:11687135 G / A
gnomAD v2:
19-11687135-G-A
gnomAD v3:
19-11576320-G-A
gnomAD v4:
19-11576320-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11576320G>A , CM000681.2:g.11576320G>A | GRCh38 |
| NC_000019.9:g.11687135G>A , CM000681.1:g.11687135G>A | GRCh37 |
| NC_000019.8:g.11548135G>A | NCBI36 |
| NG_028127.1:g.7667C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218758.10:c.658C>T (ACP5) | ENSP00000218758.4:p.Leu220= | |
| ENST00000412435.7:c.658C>T (ACP5) | ENSP00000392374.1:p.Leu220= | |
| ENST00000588524.6:n.1291C>T (ACP5) | ||
| ENST00000589792.6:c.658C>T (ACP5) | ENSP00000468685.2:p.Leu220= | |
| ENST00000590832.2:c.658C>T (ACP5) | ENSP00000465127.2:p.Leu220= | |
| ENST00000591319.2:c.658C>T (ACP5) | ENSP00000464831.2:p.Leu220= | |
| ENST00000592659.2:c.658C>T (ACP5) | ENSP00000465498.2:p.Leu220= | |
| ENST00000592828.7:c.658C>T (ACP5) | ENSP00000468767.3:p.Leu220= | |
| ENST00000649386.2:c.658C>T (ACP5) | ENSP00000497140.2:p.Leu220= | |
| ENST00000695791.1:c.658C>T (ACP5) | ENSP00000512173.1:p.Leu220= | |
| ENST00000695809.1:c.655C>T (ACP5) | ENSP00000512189.1:p.Leu219= | |
| ENST00000695810.1:c.580C>T (ACP5) | ENSP00000512190.1:p.Leu194= | |
| ENST00000695811.1:c.658C>T (ACP5) | ENSP00000512191.1:p.Leu220= | |
| ENST00000695812.1:n.1276C>T (ACP5) | ||
| ENST00000695813.1:c.655C>T (ACP5) | ENSP00000512192.1:p.Leu219= | |
| ENST00000695814.1:c.559C>T (ACP5) | ENSP00000512193.1:p.Leu187= | |
| ENST00000695815.1:c.655C>T (ACP5) | ENSP00000512194.1:p.Leu219= | |
| ENST00000695816.1:n.1213C>T (ACP5) | ||
| ENST00000695817.1:c.655C>T (ACP5) | ENSP00000512195.1:p.Leu219= | |
| ENST00000695818.1:c.*161C>T (ACP5) | ENSP00000512196.1:n.*161C>T | |
| ENST00000695819.1:n.1163C>T (ACP5) | ||
| ENST00000695820.1:c.580C>T (ACP5) | ENSP00000512198.1:p.Leu194= | |
| ENST00000695821.1:c.580C>T (ACP5) | ENSP00000512199.1:p.Leu194= | |
| ENST00000695838.1:n.2634C>T (ACP5) | ||
| ENST00000648477.1:c.658C>T (ACP5) MANE Select | ENSP00000496973.1:p.Leu220= | |
| ENST00000218758.9:c.658C>T (ACP5) | ENSP00000218758.4:p.Leu220= | |
| ENST00000412435.6:c.658C>T (ACP5) | ENSP00000392374.1:p.Leu220= | |
| ENST00000433365.2:c.658C>T (ACP5) | ENSP00000413456.1:p.Leu220= | |
| ENST00000585493.5:c.-94+967G>A (ZNF627) | ENSP00000464997.1:n.-94+967G>A | |
| ENST00000590420.1:c.54+944C>T (ACP5) | ENSP00000468509.1:n.54+944C>T | |
| ENST00000592828.5:c.658C>T (ACP5) | ENSP00000468767.1:p.Leu220= | |
| ENST00000593279.5:n.519+967G>A (ZNF627) | ||
| NM_001111034.1:c.658C>T (ACP5) | NP_001104504.1:p.Leu220= | |
| NM_001111035.1:c.658C>T (ACP5) | NP_001104505.1:p.Leu220= | |
| NM_001111036.1:c.658C>T (ACP5) | NP_001104506.1:p.Leu220= | |
| NM_001611.3:c.658C>T (ACP5) | NP_001602.1:p.Leu220= | |
| XM_005259938.1:c.658C>T (ACP5) | XP_005259995.1:p.Leu220= | |
| XM_005259939.3:c.658C>T (ACP5) | XP_005259996.1:p.Leu220= | |
| XM_011527780.1:c.-94+967G>A (ZNF627) | XP_011526082.1:n.-94+967G>A | |
| XM_011528069.1:c.658C>T (ACP5) | XP_011526371.1:p.Leu220= | |
| NM_001111034.2:c.658C>T (ACP5) | NP_001104504.1:p.Leu220= | |
| NM_001111035.2:c.658C>T (ACP5) | NP_001104505.1:p.Leu220= | |
| NM_001111036.2:c.658C>T (ACP5) | NP_001104506.1:p.Leu220= | |
| NM_001322023.1:c.658C>T (ACP5) | NP_001308952.1:p.Leu220= | |
| NM_001611.5:c.658C>T (ACP5) MANE Select | NP_001602.1:p.Leu220= | |
| XM_011527780.2:c.-94+967G>A (ZNF627) | XP_011526082.1:n.-94+967G>A | |
| XM_011528069.2:c.658C>T (ACP5) | XP_011526371.1:p.Leu220= | |
| NM_001111034.3:c.658C>T (ACP5) | NP_001104504.1:p.Leu220= | |
| NM_001111035.3:c.658C>T (ACP5) | NP_001104505.1:p.Leu220= | |
| NM_001111036.3:c.658C>T (ACP5) | NP_001104506.1:p.Leu220= | |
| NM_001322023.2:c.658C>T (ACP5) | NP_001308952.1:p.Leu220= |