Linked Data
ClinVar Variation Id:
204936
dbSNP Id:
rs370263335
ExAC:
2:152695647 G / A
gnomAD v2:
2-152695647-G-A
gnomAD v3:
2-151839133-G-A
gnomAD v4:
2-151839133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151839133G>A , CM000664.2:g.151839133G>A | GRCh38 |
| NC_000002.11:g.152695647G>A , CM000664.1:g.152695647G>A | GRCh37 |
| NC_000002.10:g.152403893G>A | NCBI36 |
| NG_012641.1:g.264947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.1447C>T | ENSP00000443893.1:p.Arg483Ter | |
| ENST00000201943.10:c.1363C>T | ENSP00000201943.5:p.Arg455Ter | |
| ENST00000360283.11:c.1405C>T | ENSP00000353425.8:p.Arg469Ter | |
| ENST00000397327.7:c.1312C>T | ENSP00000380490.3:p.Arg438Ter | |
| ENST00000427385.6:c.1426C>T | ENSP00000410978.2:p.Arg476Ter | |
| ENST00000439467.6:c.1408C>T | ENSP00000390161.2:p.Arg470Ter | |
| ENST00000534999.6:c.1447C>T | ENSP00000443893.1:p.Arg483Ter | |
| ENST00000539935.7:c.1549C>T MANE Select | ENSP00000438949.1:p.Arg517Ter | |
| ENST00000635738.1:c.*764C>T | ENSP00000489881.1:n.*764C>T | |
| ENST00000635803.1:n.1620C>T | ||
| ENST00000635890.1:c.538C>T | ||
| ENST00000635904.1:c.*1260C>T | ENSP00000490430.1:n.*1260C>T | |
| ENST00000635930.1:c.*579C>T | ENSP00000489953.1:n.*579C>T | |
| ENST00000636024.1:c.184+2535C>T | ||
| ENST00000636108.1:c.991C>T | ENSP00000490176.1:p.Arg331Ter | |
| ENST00000636130.1:c.1222C>T | ENSP00000490607.1:p.Arg408Ter | |
| ENST00000636350.1:c.1345C>T | ENSP00000489621.1:p.Arg449Ter | |
| ENST00000636380.1:c.1042C>T | ENSP00000490488.1:p.Arg348Ter | |
| ENST00000636442.1:c.1372C>T | ENSP00000489779.1:p.Arg458Ter | |
| ENST00000636507.1:c.*764C>T | ENSP00000490252.1:n.*764C>T | |
| ENST00000636598.1:c.1408C>T | ENSP00000490247.1:p.Arg470Ter | |
| ENST00000636617.1:c.1210C>T | ENSP00000490660.1:p.Arg404Ter | |
| ENST00000636664.1:c.*483C>T | ENSP00000490572.1:n.*483C>T | |
| ENST00000636721.1:c.805C>T | ENSP00000490795.1:p.Arg269Ter | |
| ENST00000636762.1:c.*951C>T | ENSP00000490918.1:n.*951C>T | |
| ENST00000636773.1:c.1222C>T | ENSP00000489818.1:p.Arg408Ter | |
| ENST00000636785.1:c.1078C>T | ENSP00000489788.1:p.Arg360Ter | |
| ENST00000636810.1:n.3612C>T | ||
| ENST00000636831.1:n.3281C>T | ||
| ENST00000636901.1:c.1165C>T | ENSP00000490145.1:p.Arg389Ter | |
| ENST00000637007.1:c.754C>T | ||
| ENST00000637132.1:c.*579C>T | ENSP00000490651.1:n.*579C>T | |
| ENST00000637217.1:c.1408C>T | ENSP00000490250.1:p.Arg470Ter | |
| ENST00000637224.1:c.*827+14315C>T | ENSP00000490276.1:n.*827+14315C>T | |
| ENST00000637232.1:c.*375C>T | ENSP00000490138.1:n.*375C>T | |
| ENST00000637284.1:c.991C>T | ENSP00000489787.1:p.Arg331Ter | |
| ENST00000637309.1:c.*234C>T | ENSP00000490127.1:n.*234C>T | |
| ENST00000637312.1:c.*818C>T | ENSP00000490144.1:n.*818C>T | |
| ENST00000637319.1:n.3122C>T | ||
| ENST00000637330.1:c.*1390C>T | ENSP00000490817.1:n.*1390C>T | |
| ENST00000637418.1:c.1324C>T | ENSP00000489679.1:p.Arg442Ter | |
| ENST00000637436.1:c.*1367C>T | ENSP00000489746.1:n.*1367C>T | |
| ENST00000637491.1:c.*764C>T | ENSP00000490510.1:n.*764C>T | |
| ENST00000637514.1:c.991C>T | ENSP00000490304.1:p.Arg331Ter | |
| ENST00000637530.1:n.2962C>T | ||
| ENST00000637535.1:c.*579C>T | ENSP00000490891.1:n.*579C>T | |
| ENST00000637547.1:c.910C>T | ENSP00000490124.1:p.Arg304Ter | |
| ENST00000637550.1:c.*375C>T | ENSP00000489943.1:n.*375C>T | |
| ENST00000637559.1:c.*332+2770C>T | ENSP00000489697.1:n.*332+2770C>T | |
| ENST00000637762.1:c.1459C>T | ENSP00000489876.1:p.Arg487Ter | |
| ENST00000637765.1:n.2866C>T | ||
| ENST00000637779.1:c.1258C>T | ENSP00000489732.1:p.Arg420Ter | |
| ENST00000637828.1:c.*298C>T | ENSP00000490443.1:n.*298C>T | |
| ENST00000637913.1:n.1534C>T | ||
| ENST00000637942.1:n.1700C>T | ||
| ENST00000637956.1:c.*393C>T | ENSP00000490298.1:n.*393C>T | |
| ENST00000638005.1:c.1495C>T | ENSP00000489677.1:p.Arg499Ter | |
| ENST00000638040.1:c.1219C>T | ENSP00000489883.1:p.Arg407Ter | |
| ENST00000638091.1:c.1261C>T | ENSP00000489967.1:p.Arg421Ter | |
| ENST00000638150.1:c.*780C>T | ENSP00000490501.1:n.*780C>T | |
| ENST00000201943.9:c.1363C>T | ENSP00000201943.5:p.Arg455Ter | |
| ENST00000360283.10:c.*764C>T | ENSP00000353425.7:n.*764C>T | |
| ENST00000397327.6:c.1408C>T | ENSP00000380490.2:p.Arg470Ter | |
| ENST00000427385.5:c.1495C>T | ENSP00000410978.1:p.Arg499Ter | |
| ENST00000439467.5:c.1534C>T | ENSP00000390161.1:p.Arg512Ter | |
| ENST00000534999.5:c.1447C>T | ENSP00000443893.1:p.Arg483Ter | |
| ENST00000539935.5:c.1549C>T | ENSP00000438949.1:p.Arg517Ter | |
| NM_000726.3:c.1549C>T | NP_000717.2:p.Arg517Ter | |
| NM_001005746.2:c.1495C>T | NP_001005746.1:p.Arg499Ter | |
| NM_001005747.2:c.1447C>T | NP_001005747.1:p.Arg483Ter | |
| NM_001145798.1:c.1363C>T | NP_001139270.1:p.Arg455Ter | |
| XM_006712731.1:c.1408C>T | XP_006712794.1:p.Arg470Ter | |
| XM_011511795.1:c.1408C>T | XP_011510097.1:p.Arg470Ter | |
| XM_011511796.1:c.1405C>T | XP_011510098.1:p.Arg469Ter | |
| XM_011511797.1:c.1360C>T | XP_011510099.1:p.Arg454Ter | |
| XM_011511800.1:c.895C>T | XP_011510102.1:p.Arg299Ter | |
| NM_000726.4:c.1549C>T | NP_000717.2:p.Arg517Ter | |
| NM_001005746.3:c.1495C>T | NP_001005746.1:p.Arg499Ter | |
| NM_001005747.3:c.1447C>T | NP_001005747.1:p.Arg483Ter | |
| NM_001145798.2:c.1363C>T | NP_001139270.1:p.Arg455Ter | |
| NM_001320722.2:c.1408C>T | NP_001307651.1:p.Arg470Ter | |
| NM_001330113.1:c.1306C>T | NP_001317042.1:p.Arg436Ter | |
| NM_001330114.1:c.895C>T | NP_001317043.1:p.Arg299Ter | |
| NM_001330115.1:c.1258C>T | NP_001317044.1:p.Arg420Ter | |
| NM_001330116.1:c.1219C>T | NP_001317045.1:p.Arg407Ter | |
| NM_001330117.1:c.991C>T | NP_001317046.1:p.Arg331Ter | |
| NM_001330118.1:c.1408C>T | NP_001317047.1:p.Arg470Ter | |
| XM_011511796.2:c.1405C>T | XP_011510098.1:p.Arg469Ter | |
| XM_011511797.3:c.1360C>T | XP_011510099.1:p.Arg454Ter | |
| XM_017004885.1:c.895C>T | XP_016860374.1:p.Arg299Ter | |
| XM_024453128.1:c.991C>T | XP_024308896.1:p.Arg331Ter | |
| XR_001738928.1:n.3407C>T | ||
| XR_001738935.1:n.1517C>T | ||
| XR_001738937.2:n.1658C>T | ||
| XR_001738938.2:n.2327C>T | ||
| XR_001738939.1:n.1627C>T | ||
| XR_001738940.2:n.1768C>T | ||
| XR_002959337.1:n.1937C>T | ||
| XR_002959338.1:n.1899C>T | ||
| XR_923022.3:n.1774C>T | ||
| NM_001005746.4:c.1495C>T | NP_001005746.1:p.Arg499Ter | |
| NM_001005747.4:c.1447C>T | NP_001005747.1:p.Arg483Ter | |
| NM_001320722.3:c.1408C>T | NP_001307651.1:p.Arg470Ter | |
| NM_001330113.2:c.1306C>T | NP_001317042.1:p.Arg436Ter | |
| NM_001330114.2:c.895C>T | NP_001317043.1:p.Arg299Ter | |
| NM_001330115.2:c.1258C>T | NP_001317044.1:p.Arg420Ter | |
| NM_001330116.2:c.1219C>T | NP_001317045.1:p.Arg407Ter | |
| NM_001330117.2:c.991C>T | NP_001317046.1:p.Arg331Ter | |
| NM_000726.5:c.1549C>T MANE Select | NP_000717.2:p.Arg517Ter |