Linked Data
dbSNP Id:
rs770598879
ExAC:
10:55569132 T / A
gnomAD v2:
10-55569132-T-A
gnomAD v3:
10-53809372-T-A
gnomAD v4:
10-53809372-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53809372T>A , CM000672.2:g.53809372T>A | GRCh38 |
| NC_000010.10:g.55569132T>A , CM000672.1:g.55569132T>A | GRCh37 |
| NC_000010.9:g.55239138T>A | NCBI36 |
| NG_009191.2:g.996920A>T | |
| NG_009191.3:g.1824811A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4693A>T | ENSP00000482794.1:p.Arg1565Ter | |
| ENST00000395445.6:c.4672A>T | ENSP00000378832.2:p.Arg1558Ter | |
| ENST00000613657.5:c.4693A>T | ENSP00000482794.1:p.Arg1565Ter | |
| ENST00000642496.1:c.3530+1184A>T | ||
| ENST00000644397.2:c.4671+1184A>T MANE Select | ENSP00000495195.1:n.4671+1184A>T | |
| ENST00000373965.6:c.4482+1184A>T | ENSP00000363076.3:n.4482+1184A>T | |
| ENST00000395438.5:c.*108A>T | ENSP00000378826.2:n.*108A>T | |
| ENST00000395440.5:c.1480A>T | ENSP00000378827.1:p.Arg494Ter | |
| ENST00000395442.5:c.1273A>T | ENSP00000378829.1:p.Arg425Ter | |
| ENST00000395445.5:c.4672A>T | ENSP00000378832.2:p.Arg1558Ter | |
| ENST00000395446.5:c.2266A>T | ENSP00000378833.1:p.Arg756Ter | |
| ENST00000409834.5:c.*108A>T | ENSP00000386693.1:n.*108A>T | |
| ENST00000414367.5:c.*731A>T | ENSP00000412531.1:n.*731A>T | |
| ENST00000414778.5:c.4479+1184A>T | ENSP00000410304.2:n.4479+1184A>T | |
| ENST00000476074.5:n.609+1184A>T | ||
| ENST00000495484.5:c.699+1184A>T | ENSP00000480780.1:n.699+1184A>T | |
| ENST00000612394.4:c.4690A>T | ENSP00000482921.1:p.Arg1564Ter | |
| ENST00000613657.4:c.4693A>T | ENSP00000482794.1:p.Arg1565Ter | |
| ENST00000614895.4:c.4494+1184A>T | ENSP00000478512.1:n.4494+1184A>T | |
| ENST00000615043.1:c.293A>T | ||
| ENST00000616114.4:c.4476+1184A>T | ENSP00000483745.1:n.4476+1184A>T | |
| ENST00000617271.4:c.*108A>T | ENSP00000478076.1:n.*108A>T | |
| ENST00000618301.4:c.831+1184A>T | ENSP00000482780.1:n.831+1184A>T | |
| ENST00000621708.4:c.4497+1184A>T | ENSP00000484454.1:n.4497+1184A>T | |
| NM_001142769.1:c.4693A>T | NP_001136241.1:p.Arg1565Ter | |
| NM_001142770.1:c.*108A>T | NP_001136242.1:n.*108A>T | |
| NM_001142771.1:c.4497+1184A>T | NP_001136243.1:n.4497+1184A>T | |
| NM_001142772.1:c.4482+1184A>T | NP_001136244.1:n.4482+1184A>T | |
| NM_001142769.2:c.4693A>T | NP_001136241.1:p.Arg1565Ter | |
| NM_001142770.2:c.*108A>T | NP_001136242.1:n.*108A>T | |
| NM_001354411.1:c.4672A>T | NP_001341340.1:p.Arg1558Ter | |
| NM_001354420.1:c.4476+1184A>T | NP_001341349.1:n.4476+1184A>T | |
| NM_001354429.1:c.4605+1184A>T | NP_001341358.1:n.4605+1184A>T | |
| XM_017016573.2:c.4672A>T | XP_016872062.1:p.Arg1558Ter | |
| XR_001747192.2:n.10963+1184A>T | ||
| XR_001747193.2:n.10954+1184A>T | ||
| NM_001142769.3:c.4693A>T | NP_001136241.1:p.Arg1565Ter | |
| NM_001142770.3:c.*108A>T | NP_001136242.1:n.*108A>T | |
| NM_001142771.2:c.4497+1184A>T | NP_001136243.1:n.4497+1184A>T | |
| NM_001142772.2:c.4482+1184A>T | NP_001136244.1:n.4482+1184A>T | |
| NM_001354411.2:c.4672A>T | NP_001341340.1:p.Arg1558Ter | |
| NM_001354420.2:c.4476+1184A>T | NP_001341349.1:n.4476+1184A>T | |
| NM_001354429.2:c.4605+1184A>T | NP_001341358.1:n.4605+1184A>T | |
| NM_001384140.1:c.4671+1184A>T MANE Select | NP_001371069.1:n.4671+1184A>T |