Linked Data
ClinVar Variation Id:
402273
ClinVar RCV Id:
RCV000454314
dbSNP Id:
rs1056396947
gnomAD v4:
10-53809339-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53809339G>A , CM000672.2:g.53809339G>A | GRCh38 |
| NC_000010.10:g.55569099G>A , CM000672.1:g.55569099G>A | GRCh37 |
| NC_000010.9:g.55239105G>A | NCBI36 |
| NG_009191.2:g.996953C>T | |
| NG_009191.3:g.1824844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4726C>T | ENSP00000482794.1:p.Gln1576Ter | |
| ENST00000395445.6:c.4705C>T | ENSP00000378832.2:p.Gln1569Ter | |
| ENST00000613657.5:c.4726C>T | ENSP00000482794.1:p.Gln1576Ter | |
| ENST00000642496.1:c.3530+1217C>T | ||
| ENST00000644397.2:c.4671+1217C>T MANE Select | ENSP00000495195.1:n.4671+1217C>T | |
| ENST00000373965.6:c.4482+1217C>T | ENSP00000363076.3:n.4482+1217C>T | |
| ENST00000395438.5:c.*141C>T | ENSP00000378826.2:n.*141C>T | |
| ENST00000395440.5:c.1513C>T | ENSP00000378827.1:p.Gln505Ter | |
| ENST00000395442.5:c.1306C>T | ENSP00000378829.1:p.Gln436Ter | |
| ENST00000395445.5:c.4705C>T | ENSP00000378832.2:p.Gln1569Ter | |
| ENST00000395446.5:c.2299C>T | ENSP00000378833.1:p.Gln767Ter | |
| ENST00000409834.5:c.*141C>T | ENSP00000386693.1:n.*141C>T | |
| ENST00000414367.5:c.*764C>T | ENSP00000412531.1:n.*764C>T | |
| ENST00000414778.5:c.4479+1217C>T | ENSP00000410304.2:n.4479+1217C>T | |
| ENST00000476074.5:n.609+1217C>T | ||
| ENST00000495484.5:c.699+1217C>T | ENSP00000480780.1:n.699+1217C>T | |
| ENST00000612394.4:c.4723C>T | ENSP00000482921.1:p.Gln1575Ter | |
| ENST00000613657.4:c.4726C>T | ENSP00000482794.1:p.Gln1576Ter | |
| ENST00000614895.4:c.4494+1217C>T | ENSP00000478512.1:n.4494+1217C>T | |
| ENST00000615043.1:c.326C>T | ||
| ENST00000616114.4:c.4476+1217C>T | ENSP00000483745.1:n.4476+1217C>T | |
| ENST00000617271.4:c.*141C>T | ENSP00000478076.1:n.*141C>T | |
| ENST00000618301.4:c.831+1217C>T | ENSP00000482780.1:n.831+1217C>T | |
| ENST00000621708.4:c.4497+1217C>T | ENSP00000484454.1:n.4497+1217C>T | |
| NM_001142769.1:c.4726C>T | NP_001136241.1:p.Gln1576Ter | |
| NM_001142770.1:c.*141C>T | NP_001136242.1:n.*141C>T | |
| NM_001142771.1:c.4497+1217C>T | NP_001136243.1:n.4497+1217C>T | |
| NM_001142772.1:c.4482+1217C>T | NP_001136244.1:n.4482+1217C>T | |
| NM_001142769.2:c.4726C>T | NP_001136241.1:p.Gln1576Ter | |
| NM_001142770.2:c.*141C>T | NP_001136242.1:n.*141C>T | |
| NM_001354411.1:c.4705C>T | NP_001341340.1:p.Gln1569Ter | |
| NM_001354420.1:c.4476+1217C>T | NP_001341349.1:n.4476+1217C>T | |
| NM_001354429.1:c.4605+1217C>T | NP_001341358.1:n.4605+1217C>T | |
| XM_017016573.2:c.4705C>T | XP_016872062.1:p.Gln1569Ter | |
| XR_001747192.2:n.10963+1217C>T | ||
| XR_001747193.2:n.10954+1217C>T | ||
| NM_001142769.3:c.4726C>T | NP_001136241.1:p.Gln1576Ter | |
| NM_001142770.3:c.*141C>T | NP_001136242.1:n.*141C>T | |
| NM_001142771.2:c.4497+1217C>T | NP_001136243.1:n.4497+1217C>T | |
| NM_001142772.2:c.4482+1217C>T | NP_001136244.1:n.4482+1217C>T | |
| NM_001354411.2:c.4705C>T | NP_001341340.1:p.Gln1569Ter | |
| NM_001354420.2:c.4476+1217C>T | NP_001341349.1:n.4476+1217C>T | |
| NM_001354429.2:c.4605+1217C>T | NP_001341358.1:n.4605+1217C>T | |
| NM_001384140.1:c.4671+1217C>T MANE Select | NP_001371069.1:n.4671+1217C>T |