Linked Data
dbSNP Id:
rs755934380
ExAC:
11:68846478 T / A
gnomAD v2:
11-68846478-T-A
gnomAD v3:
11-69079010-T-A
gnomAD v4:
11-69079010-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69079010T>A , CM000673.2:g.69079010T>A | GRCh38 |
| NC_000011.9:g.68846478T>A , CM000673.1:g.68846478T>A | GRCh37 |
| NC_000011.8:g.68603054T>A | NCBI36 |
| NG_016153.1:g.35129T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.386T>A | ENSP00000509200.1:p.Val129Asp | |
| ENST00000294309.8:c.1529T>A MANE Select | ENSP00000294309.3:p.Val510Asp | |
| ENST00000635811.1:c.1529T>A | ENSP00000490341.1:p.Val510Asp | |
| ENST00000637084.1:c.386T>A | ENSP00000490615.1:p.Val129Asp | |
| ENST00000637342.1:c.1529T>A | ENSP00000490171.1:p.Val510Asp | |
| ENST00000637504.1:c.1529T>A | ENSP00000489759.1:p.Val510Asp | |
| ENST00000294309.7:c.1529T>A | ENSP00000294309.3:p.Val510Asp | |
| ENST00000442692.2:n.1122T>A | ||
| ENST00000535009.5:n.1338T>A | ||
| ENST00000542467.1:c.1529T>A | ENSP00000445551.1:p.Val510Asp | |
| NM_139075.3:c.1529T>A | NP_620714.2:p.Val510Asp | |
| XM_005273824.2:c.1526T>A | XP_005273881.1:p.Val509Asp | |
| XM_005273826.2:c.1274T>A | XP_005273883.1:p.Val425Asp | |
| XM_005273827.2:c.1529T>A | XP_005273884.1:p.Val510Asp | |
| XM_005273828.2:c.1529T>A | XP_005273885.1:p.Val510Asp | |
| XM_005273830.2:c.836T>A | XP_005273887.1:p.Val279Asp | |
| XM_005273831.2:c.836T>A | XP_005273888.1:p.Val279Asp | |
| XM_005273832.2:c.806T>A | XP_005273889.1:p.Val269Asp | |
| XM_006718453.2:c.1529T>A | XP_006718516.1:p.Val510Asp | |
| XM_006718454.2:c.1529T>A | XP_006718517.1:p.Val510Asp | |
| XM_006718456.2:c.1529T>A | XP_006718519.1:p.Val510Asp | |
| XM_011544802.1:c.1289T>A | XP_011543104.1:p.Val430Asp | |
| XM_011544803.1:c.1529T>A | XP_011543105.1:p.Val510Asp | |
| XM_011544804.1:c.1529T>A | XP_011543106.1:p.Val510Asp | |
| XM_011544805.1:c.1529T>A | XP_011543107.1:p.Val510Asp | |
| XM_011544806.1:c.1529T>A | XP_011543108.1:p.Val510Asp | |
| XM_011544807.1:c.833T>A | XP_011543109.1:p.Val278Asp | |
| XM_011544808.1:c.698T>A | XP_011543110.1:p.Val233Asp | |
| XR_247191.1:n.1630T>A | ||
| XM_005273824.4:c.1526T>A | XP_005273881.1:p.Val509Asp | |
| XM_005273826.4:c.1274T>A | XP_005273883.1:p.Val425Asp | |
| XM_005273830.4:c.836T>A | XP_005273887.1:p.Val279Asp | |
| XM_005273831.4:c.836T>A | XP_005273888.1:p.Val279Asp | |
| XM_005273832.4:c.806T>A | XP_005273889.1:p.Val269Asp | |
| XM_011544802.3:c.1289T>A | XP_011543104.1:p.Val430Asp | |
| XM_011544807.3:c.833T>A | XP_011543109.1:p.Val278Asp | |
| XM_011544808.3:c.698T>A | XP_011543110.1:p.Val233Asp | |
| XM_017017328.2:c.1360T>A | XP_016872817.1:p.Leu454Met | |
| XM_017017329.2:c.1357T>A | XP_016872818.1:p.Leu453Met | |
| XM_017017330.2:c.806T>A | XP_016872819.1:p.Val269Asp | |
| XM_017017331.2:c.806T>A | XP_016872820.1:p.Val269Asp | |
| XM_017017332.2:c.620T>A | XP_016872821.1:p.Val207Asp | |
| XM_017017333.2:c.637T>A | XP_016872822.1:p.Leu213Met | |
| XM_017017334.2:c.637T>A | XP_016872823.1:p.Leu213Met | |
| XM_017017335.2:c.637T>A | XP_016872824.1:p.Leu213Met | |
| XM_017017336.2:c.529T>A | XP_016872825.1:p.Leu177Met | |
| XM_024448392.1:c.1319T>A | XP_024304160.1:p.Val440Asp | |
| XM_024448393.1:c.806T>A | XP_024304161.1:p.Val269Asp | |
| XR_001747789.2:n.1461T>A | ||
| XR_001747790.2:n.1461T>A | ||
| XR_247191.3:n.1633T>A | ||
| NM_139075.4:c.1529T>A MANE Select | NP_620714.2:p.Val510Asp |