Linked Data
ClinVar Variation Id:
4933
ClinVar RCV Id:
RCV000005218
RCV000055970
RCV000218809
RCV000269122
RCV000477806
RCV000824735
RCV001004803
RCV001030749
dbSNP Id:
rs111033260
ExAC:
10:56077174 G / A
gnomAD v2:
10-56077174-G-A
gnomAD v3:
10-54317414-G-A
gnomAD v4:
10-54317414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54317414G>A , CM000672.2:g.54317414G>A | GRCh38 |
| NC_000010.10:g.56077174G>A , CM000672.1:g.56077174G>A | GRCh37 |
| NC_000010.9:g.55747180G>A | NCBI36 |
| NG_009191.2:g.488878C>T | |
| NG_009191.3:g.1316769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.748C>T | ENSP00000482794.1:p.Arg250Ter | |
| ENST00000320301.11:c.733C>T MANE Plus Clinical | ENSP00000322604.6:p.Arg245Ter | |
| ENST00000395445.6:c.733C>T | ENSP00000378832.2:p.Arg245Ter | |
| ENST00000613657.5:c.748C>T | ENSP00000482794.1:p.Arg250Ter | |
| ENST00000644397.2:c.733C>T MANE Select | ENSP00000495195.1:p.Arg245Ter | |
| ENST00000320301.10:c.733C>T | ENSP00000322604.6:p.Arg245Ter | |
| ENST00000361849.7:c.733C>T | ENSP00000354950.3:p.Arg245Ter | |
| ENST00000373955.5:c.733C>T | ENSP00000363066.1:p.Arg245Ter | |
| ENST00000373956.7:c.733C>T | ENSP00000363067.4:p.Arg245Ter | |
| ENST00000373957.7:c.748C>T | ENSP00000363068.4:p.Arg250Ter | |
| ENST00000373965.6:c.733C>T | ENSP00000363076.3:p.Arg245Ter | |
| ENST00000395430.5:c.733C>T | ENSP00000378818.1:p.Arg245Ter | |
| ENST00000395432.6:c.622C>T | ENSP00000378820.2:p.Arg208Ter | |
| ENST00000395433.5:c.667C>T | ENSP00000378821.1:p.Arg223Ter | |
| ENST00000395438.5:c.733C>T | ENSP00000378826.2:p.Arg245Ter | |
| ENST00000395440.5:c.733C>T | ENSP00000378827.1:p.Arg245Ter | |
| ENST00000395442.5:c.733C>T | ENSP00000378829.1:p.Arg245Ter | |
| ENST00000395445.5:c.733C>T | ENSP00000378832.2:p.Arg245Ter | |
| ENST00000395446.5:c.733C>T | ENSP00000378833.1:p.Arg245Ter | |
| ENST00000409834.5:c.-90-121525C>T | ENSP00000386693.1:n.-90-121525C>T | |
| ENST00000414367.5:c.733C>T | ENSP00000412531.1:p.Arg245Ter | |
| ENST00000414778.5:c.733C>T | ENSP00000410304.2:p.Arg245Ter | |
| ENST00000437009.5:c.733C>T | ENSP00000412628.2:p.Arg245Ter | |
| ENST00000448885.5:c.733C>T | ENSP00000412320.1:p.Arg245Ter | |
| ENST00000495484.5:c.-24-460151C>T | ENSP00000480780.1:n.-24-460151C>T | |
| ENST00000612394.4:c.748C>T | ENSP00000482921.1:p.Arg250Ter | |
| ENST00000613657.4:c.748C>T | ENSP00000482794.1:p.Arg250Ter | |
| ENST00000614895.4:c.748C>T | ENSP00000478512.1:p.Arg250Ter | |
| ENST00000616114.4:c.733C>T | ENSP00000483745.1:p.Arg245Ter | |
| ENST00000617051.4:c.748C>T | ENSP00000484703.1:p.Arg250Ter | |
| ENST00000617271.4:c.733C>T | ENSP00000478076.1:p.Arg245Ter | |
| ENST00000621708.4:c.748C>T | ENSP00000484454.1:p.Arg250Ter | |
| ENST00000622048.4:c.733C>T | ENSP00000482329.1:p.Arg245Ter | |
| NM_001142763.1:c.748C>T | NP_001136235.1:p.Arg250Ter | |
| NM_001142764.1:c.733C>T | NP_001136236.1:p.Arg245Ter | |
| NM_001142765.1:c.733C>T | NP_001136237.1:p.Arg245Ter | |
| NM_001142766.1:c.733C>T | NP_001136238.1:p.Arg245Ter | |
| NM_001142767.1:c.622C>T | NP_001136239.1:p.Arg208Ter | |
| NM_001142768.1:c.667C>T | NP_001136240.1:p.Arg223Ter | |
| NM_001142769.1:c.748C>T | NP_001136241.1:p.Arg250Ter | |
| NM_001142770.1:c.733C>T | NP_001136242.1:p.Arg245Ter | |
| NM_001142771.1:c.748C>T | NP_001136243.1:p.Arg250Ter | |
| NM_001142772.1:c.733C>T | NP_001136244.1:p.Arg245Ter | |
| NM_001142773.1:c.667C>T | NP_001136245.1:p.Arg223Ter | |
| NM_033056.3:c.733C>T | NP_149045.3:p.Arg245Ter | |
| NM_001142769.2:c.748C>T | NP_001136241.1:p.Arg250Ter | |
| NM_001142770.2:c.733C>T | NP_001136242.1:p.Arg245Ter | |
| NM_001354404.1:c.667C>T | NP_001341333.1:p.Arg223Ter | |
| NM_001354411.1:c.733C>T | NP_001341340.1:p.Arg245Ter | |
| NM_001354420.1:c.733C>T | NP_001341349.1:p.Arg245Ter | |
| NM_001354429.1:c.733C>T | NP_001341358.1:p.Arg245Ter | |
| NM_001354430.1:c.733C>T | NP_001341359.1:p.Arg245Ter | |
| XM_017016573.2:c.748C>T | XP_016872062.1:p.Arg250Ter | |
| XR_001747192.2:n.1746C>T | ||
| XR_001747193.2:n.1746C>T | ||
| NM_001142763.2:c.748C>T | NP_001136235.1:p.Arg250Ter | |
| NM_001142764.2:c.733C>T | NP_001136236.1:p.Arg245Ter | |
| NM_001142765.2:c.733C>T | NP_001136237.1:p.Arg245Ter | |
| NM_001142766.2:c.733C>T | NP_001136238.1:p.Arg245Ter | |
| NM_001142768.2:c.667C>T | NP_001136240.1:p.Arg223Ter | |
| NM_001142769.3:c.748C>T | NP_001136241.1:p.Arg250Ter | |
| NM_001142770.3:c.733C>T | NP_001136242.1:p.Arg245Ter | |
| NM_001142771.2:c.748C>T | NP_001136243.1:p.Arg250Ter | |
| NM_001142772.2:c.733C>T | NP_001136244.1:p.Arg245Ter | |
| NM_001142773.2:c.667C>T | NP_001136245.1:p.Arg223Ter | |
| NM_001354411.2:c.733C>T | NP_001341340.1:p.Arg245Ter | |
| NM_001354420.2:c.733C>T | NP_001341349.1:p.Arg245Ter | |
| NM_001354429.2:c.733C>T | NP_001341358.1:p.Arg245Ter | |
| NM_001354430.2:c.733C>T | NP_001341359.1:p.Arg245Ter | |
| NM_033056.4:c.733C>T MANE Plus Clinical | NP_149045.3:p.Arg245Ter | |
| NM_001142767.2:c.622C>T | NP_001136239.1:p.Arg208Ter | |
| NM_001354404.2:c.667C>T | NP_001341333.1:p.Arg223Ter | |
| NM_001384140.1:c.733C>T MANE Select | NP_001371069.1:p.Arg245Ter |