Linked Data
ClinVar Variation Id:
228489
ClinVar RCV Id:
RCV000353250
RCV000395353
RCV001061643
RCV002503851
RCV004529372
RCV000213719
RCV001272553
dbSNP Id:
rs200177873
ExAC:
10:73468866 G / T
gnomAD v2:
10-73468866-G-T
gnomAD v3:
10-71709109-G-T
gnomAD v4:
10-71709109-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71709109G>T , CM000672.2:g.71709109G>T | GRCh38 |
| NC_000010.10:g.73468866G>T , CM000672.1:g.73468866G>T | GRCh37 |
| NC_000010.9:g.73138872G>T | NCBI36 |
| NG_008835.1:g.317163G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3118G>T MANE Select | ENSP00000224721.9:p.Asp1040Tyr | |
| ENST00000398809.9:c.3118G>T | ENSP00000381789.5:p.Asp1040Tyr | |
| ENST00000442677.4:c.3118G>T | ENSP00000388894.3:p.Asp1040Tyr | |
| ENST00000466757.8:c.2549G>T | ||
| ENST00000224721.10:c.3133G>T | ENSP00000224721.8:p.Asp1045Tyr | |
| ENST00000398809.8:c.3118G>T | ENSP00000381789.5:p.Asp1040Tyr | |
| ENST00000442677.3:c.1893G>T | ||
| ENST00000466757.7:c.2549G>T | ||
| ENST00000616684.4:c.3118G>T | ENSP00000482036.2:p.Asp1040Tyr | |
| ENST00000622827.4:c.3118G>T | ENSP00000483211.1:p.Asp1040Tyr | |
| NM_001171930.1:c.3118G>T | NP_001165401.1:p.Asp1040Tyr | |
| NM_022124.5:c.3118G>T | NP_071407.4:p.Asp1040Tyr | |
| XM_006717940.2:c.3313G>T | XP_006718003.1:p.Asp1105Tyr | |
| XM_006717942.2:c.3247G>T | XP_006718005.1:p.Asp1083Tyr | |
| XM_011540039.1:c.3313G>T | XP_011538341.1:p.Asp1105Tyr | |
| XM_011540040.1:c.3307G>T | XP_011538342.1:p.Asp1103Tyr | |
| XM_011540041.1:c.3253G>T | XP_011538343.1:p.Asp1085Tyr | |
| XM_011540042.1:c.3313G>T | XP_011538344.1:p.Asp1105Tyr | |
| XM_011540043.1:c.3313G>T | XP_011538345.1:p.Asp1105Tyr | |
| XM_011540044.1:c.3178G>T | XP_011538346.1:p.Asp1060Tyr | |
| XM_011540045.1:c.3313G>T | XP_011538347.1:p.Asp1105Tyr | |
| XM_011540046.1:c.2773G>T | XP_011538348.1:p.Asp925Tyr | |
| XM_011540047.1:c.2131G>T | XP_011538349.1:p.Asp711Tyr | |
| XM_011540048.1:c.3313G>T | XP_011538350.1:p.Asp1105Tyr | |
| XM_011540049.1:c.3313G>T | XP_011538351.1:p.Asp1105Tyr | |
| XM_011540050.1:c.3313G>T | XP_011538352.1:p.Asp1105Tyr | |
| XM_011540051.1:c.3313G>T | XP_011538353.1:p.Asp1105Tyr | |
| XM_011540053.1:c.3313G>T | XP_011538355.1:p.Asp1105Tyr | |
| XR_945796.1:n.3556G>T | ||
| NM_001171930.2:c.3118G>T | NP_001165401.1:p.Asp1040Tyr | |
| NM_022124.6:c.3118G>T MANE Select | NP_071407.4:p.Asp1040Tyr |