Linked Data
ClinVar Variation Id:
2165936
ClinVar RCV Id:
RCV003084625
dbSNP Id:
rs771383443
ExAC:
10:73468931 G / C
gnomAD v2:
10-73468931-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71709174G>C , CM000672.2:g.71709174G>C | GRCh38 |
| NC_000010.10:g.73468931G>C , CM000672.1:g.73468931G>C | GRCh37 |
| NC_000010.9:g.73138937G>C | NCBI36 |
| NG_008835.1:g.317228G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3183G>C MANE Select | ENSP00000224721.9:p.Glu1061Asp | |
| ENST00000398809.9:c.3183G>C | ENSP00000381789.5:p.Glu1061Asp | |
| ENST00000442677.4:c.3183G>C | ENSP00000388894.3:p.Glu1061Asp | |
| ENST00000466757.8:c.2614G>C | ||
| ENST00000224721.10:c.3198G>C | ENSP00000224721.8:p.Glu1066Asp | |
| ENST00000398809.8:c.3183G>C | ENSP00000381789.5:p.Glu1061Asp | |
| ENST00000442677.3:c.1958G>C | ||
| ENST00000466757.7:c.2614G>C | ||
| ENST00000616684.4:c.3183G>C | ENSP00000482036.2:p.Glu1061Asp | |
| ENST00000622827.4:c.3183G>C | ENSP00000483211.1:p.Glu1061Asp | |
| NM_001171930.1:c.3183G>C | NP_001165401.1:p.Glu1061Asp | |
| NM_022124.5:c.3183G>C | NP_071407.4:p.Glu1061Asp | |
| XM_006717940.2:c.3378G>C | XP_006718003.1:p.Glu1126Asp | |
| XM_006717942.2:c.3312G>C | XP_006718005.1:p.Glu1104Asp | |
| XM_011540039.1:c.3378G>C | XP_011538341.1:p.Glu1126Asp | |
| XM_011540040.1:c.3372G>C | XP_011538342.1:p.Glu1124Asp | |
| XM_011540041.1:c.3318G>C | XP_011538343.1:p.Glu1106Asp | |
| XM_011540042.1:c.3378G>C | XP_011538344.1:p.Glu1126Asp | |
| XM_011540043.1:c.3378G>C | XP_011538345.1:p.Glu1126Asp | |
| XM_011540044.1:c.3243G>C | XP_011538346.1:p.Glu1081Asp | |
| XM_011540045.1:c.3378G>C | XP_011538347.1:p.Glu1126Asp | |
| XM_011540046.1:c.2838G>C | XP_011538348.1:p.Glu946Asp | |
| XM_011540047.1:c.2196G>C | XP_011538349.1:p.Glu732Asp | |
| XM_011540048.1:c.3378G>C | XP_011538350.1:p.Glu1126Asp | |
| XM_011540049.1:c.3378G>C | XP_011538351.1:p.Glu1126Asp | |
| XM_011540050.1:c.3378G>C | XP_011538352.1:p.Glu1126Asp | |
| XM_011540051.1:c.3378G>C | XP_011538353.1:p.Glu1126Asp | |
| XM_011540053.1:c.3378G>C | XP_011538355.1:p.Glu1126Asp | |
| XR_945796.1:n.3621G>C | ||
| NM_001171930.2:c.3183G>C | NP_001165401.1:p.Glu1061Asp | |
| NM_022124.6:c.3183G>C MANE Select | NP_071407.4:p.Glu1061Asp |