Linked Data
ClinVar Variation Id:
446969
dbSNP Id:
rs768385119
gnomAD v2:
2-152695726-T-A
gnomAD v3:
2-151839212-T-A
gnomAD v4:
2-151839212-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151839212T>A , CM000664.2:g.151839212T>A | GRCh38 |
| NC_000002.11:g.152695726T>A , CM000664.1:g.152695726T>A | GRCh37 |
| NC_000002.10:g.152403972T>A | NCBI36 |
| NG_012641.1:g.264868A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.1368A>T | ENSP00000443893.1:p.Glu456Asp | |
| ENST00000201943.10:c.1284A>T | ENSP00000201943.5:p.Glu428Asp | |
| ENST00000360283.11:c.1326A>T | ENSP00000353425.8:p.Glu442Asp | |
| ENST00000397327.7:c.1233A>T | ENSP00000380490.3:p.Glu411Asp | |
| ENST00000427385.6:c.1347A>T | ENSP00000410978.2:p.Glu449Asp | |
| ENST00000439467.6:c.1329A>T | ENSP00000390161.2:p.Glu443Asp | |
| ENST00000534999.6:c.1368A>T | ENSP00000443893.1:p.Glu456Asp | |
| ENST00000539935.7:c.1470A>T MANE Select | ENSP00000438949.1:p.Glu490Asp | |
| ENST00000635738.1:c.*685A>T | ENSP00000489881.1:n.*685A>T | |
| ENST00000635803.1:n.1541A>T | ||
| ENST00000635890.1:c.459A>T | ||
| ENST00000635904.1:c.*1181A>T | ENSP00000490430.1:n.*1181A>T | |
| ENST00000635930.1:c.*500A>T | ENSP00000489953.1:n.*500A>T | |
| ENST00000636024.1:c.184+2456A>T | ||
| ENST00000636108.1:c.912A>T | ENSP00000490176.1:p.Glu304Asp | |
| ENST00000636130.1:c.1143A>T | ENSP00000490607.1:p.Glu381Asp | |
| ENST00000636350.1:c.1266A>T | ENSP00000489621.1:p.Glu422Asp | |
| ENST00000636380.1:c.963A>T | ENSP00000490488.1:p.Glu321Asp | |
| ENST00000636442.1:c.1293A>T | ENSP00000489779.1:p.Glu431Asp | |
| ENST00000636507.1:c.*685A>T | ENSP00000490252.1:n.*685A>T | |
| ENST00000636598.1:c.1329A>T | ENSP00000490247.1:p.Glu443Asp | |
| ENST00000636617.1:c.1131A>T | ENSP00000490660.1:p.Glu377Asp | |
| ENST00000636664.1:c.*404A>T | ENSP00000490572.1:n.*404A>T | |
| ENST00000636721.1:c.726A>T | ENSP00000490795.1:p.Glu242Asp | |
| ENST00000636762.1:c.*872A>T | ENSP00000490918.1:n.*872A>T | |
| ENST00000636773.1:c.1143A>T | ENSP00000489818.1:p.Glu381Asp | |
| ENST00000636785.1:c.999A>T | ENSP00000489788.1:p.Glu333Asp | |
| ENST00000636810.1:n.3533A>T | ||
| ENST00000636831.1:n.3202A>T | ||
| ENST00000636901.1:c.1086A>T | ENSP00000490145.1:p.Glu362Asp | |
| ENST00000637007.1:c.675A>T | ||
| ENST00000637132.1:c.*500A>T | ENSP00000490651.1:n.*500A>T | |
| ENST00000637217.1:c.1329A>T | ENSP00000490250.1:p.Glu443Asp | |
| ENST00000637224.1:c.*827+14236A>T | ENSP00000490276.1:n.*827+14236A>T | |
| ENST00000637232.1:c.*296A>T | ENSP00000490138.1:n.*296A>T | |
| ENST00000637284.1:c.912A>T | ENSP00000489787.1:p.Glu304Asp | |
| ENST00000637309.1:c.*155A>T | ENSP00000490127.1:n.*155A>T | |
| ENST00000637312.1:c.*739A>T | ENSP00000490144.1:n.*739A>T | |
| ENST00000637319.1:n.3043A>T | ||
| ENST00000637330.1:c.*1311A>T | ENSP00000490817.1:n.*1311A>T | |
| ENST00000637418.1:c.1245A>T | ENSP00000489679.1:p.Glu415Asp | |
| ENST00000637436.1:c.*1288A>T | ENSP00000489746.1:n.*1288A>T | |
| ENST00000637491.1:c.*685A>T | ENSP00000490510.1:n.*685A>T | |
| ENST00000637514.1:c.912A>T | ENSP00000490304.1:p.Glu304Asp | |
| ENST00000637530.1:n.2883A>T | ||
| ENST00000637535.1:c.*500A>T | ENSP00000490891.1:n.*500A>T | |
| ENST00000637547.1:c.831A>T | ENSP00000490124.1:p.Glu277Asp | |
| ENST00000637550.1:c.*296A>T | ENSP00000489943.1:n.*296A>T | |
| ENST00000637559.1:c.*332+2691A>T | ENSP00000489697.1:n.*332+2691A>T | |
| ENST00000637762.1:c.1380A>T | ENSP00000489876.1:p.Glu460Asp | |
| ENST00000637765.1:n.2787A>T | ||
| ENST00000637779.1:c.1179A>T | ENSP00000489732.1:p.Glu393Asp | |
| ENST00000637828.1:c.*219A>T | ENSP00000490443.1:n.*219A>T | |
| ENST00000637913.1:n.1455A>T | ||
| ENST00000637942.1:n.1621A>T | ||
| ENST00000637956.1:c.*314A>T | ENSP00000490298.1:n.*314A>T | |
| ENST00000638005.1:c.1416A>T | ENSP00000489677.1:p.Glu472Asp | |
| ENST00000638040.1:c.1140A>T | ENSP00000489883.1:p.Glu380Asp | |
| ENST00000638091.1:c.1182A>T | ENSP00000489967.1:p.Glu394Asp | |
| ENST00000638150.1:c.*701A>T | ENSP00000490501.1:n.*701A>T | |
| ENST00000201943.9:c.1284A>T | ENSP00000201943.5:p.Glu428Asp | |
| ENST00000360283.10:c.*685A>T | ENSP00000353425.7:n.*685A>T | |
| ENST00000397327.6:c.1329A>T | ENSP00000380490.2:p.Glu443Asp | |
| ENST00000427385.5:c.1416A>T | ENSP00000410978.1:p.Glu472Asp | |
| ENST00000439467.5:c.1455A>T | ENSP00000390161.1:p.Glu485Asp | |
| ENST00000534999.5:c.1368A>T | ENSP00000443893.1:p.Glu456Asp | |
| ENST00000539935.5:c.1470A>T | ENSP00000438949.1:p.Glu490Asp | |
| NM_000726.3:c.1470A>T | NP_000717.2:p.Glu490Asp | |
| NM_001005746.2:c.1416A>T | NP_001005746.1:p.Glu472Asp | |
| NM_001005747.2:c.1368A>T | NP_001005747.1:p.Glu456Asp | |
| NM_001145798.1:c.1284A>T | NP_001139270.1:p.Glu428Asp | |
| XM_006712731.1:c.1329A>T | XP_006712794.1:p.Glu443Asp | |
| XM_011511795.1:c.1329A>T | XP_011510097.1:p.Glu443Asp | |
| XM_011511796.1:c.1326A>T | XP_011510098.1:p.Glu442Asp | |
| XM_011511797.1:c.1281A>T | XP_011510099.1:p.Glu427Asp | |
| XM_011511800.1:c.816A>T | XP_011510102.1:p.Glu272Asp | |
| NM_000726.4:c.1470A>T | NP_000717.2:p.Glu490Asp | |
| NM_001005746.3:c.1416A>T | NP_001005746.1:p.Glu472Asp | |
| NM_001005747.3:c.1368A>T | NP_001005747.1:p.Glu456Asp | |
| NM_001145798.2:c.1284A>T | NP_001139270.1:p.Glu428Asp | |
| NM_001320722.2:c.1329A>T | NP_001307651.1:p.Glu443Asp | |
| NM_001330113.1:c.1227A>T | NP_001317042.1:p.Glu409Asp | |
| NM_001330114.1:c.816A>T | NP_001317043.1:p.Glu272Asp | |
| NM_001330115.1:c.1179A>T | NP_001317044.1:p.Glu393Asp | |
| NM_001330116.1:c.1140A>T | NP_001317045.1:p.Glu380Asp | |
| NM_001330117.1:c.912A>T | NP_001317046.1:p.Glu304Asp | |
| NM_001330118.1:c.1329A>T | NP_001317047.1:p.Glu443Asp | |
| XM_011511796.2:c.1326A>T | XP_011510098.1:p.Glu442Asp | |
| XM_011511797.3:c.1281A>T | XP_011510099.1:p.Glu427Asp | |
| XM_017004885.1:c.816A>T | XP_016860374.1:p.Glu272Asp | |
| XM_024453128.1:c.912A>T | XP_024308896.1:p.Glu304Asp | |
| XR_001738928.1:n.3328A>T | ||
| XR_001738935.1:n.1438A>T | ||
| XR_001738937.2:n.1579A>T | ||
| XR_001738938.2:n.2248A>T | ||
| XR_001738939.1:n.1548A>T | ||
| XR_001738940.2:n.1689A>T | ||
| XR_002959337.1:n.1858A>T | ||
| XR_002959338.1:n.1820A>T | ||
| XR_923022.3:n.1695A>T | ||
| NM_001005746.4:c.1416A>T | NP_001005746.1:p.Glu472Asp | |
| NM_001005747.4:c.1368A>T | NP_001005747.1:p.Glu456Asp | |
| NM_001320722.3:c.1329A>T | NP_001307651.1:p.Glu443Asp | |
| NM_001330113.2:c.1227A>T | NP_001317042.1:p.Glu409Asp | |
| NM_001330114.2:c.816A>T | NP_001317043.1:p.Glu272Asp | |
| NM_001330115.2:c.1179A>T | NP_001317044.1:p.Glu393Asp | |
| NM_001330116.2:c.1140A>T | NP_001317045.1:p.Glu380Asp | |
| NM_001330117.2:c.912A>T | NP_001317046.1:p.Glu304Asp | |
| NM_000726.5:c.1470A>T MANE Select | NP_000717.2:p.Glu490Asp |