Linked Data
ClinVar Variation Id:
197506
dbSNP Id:
rs368828743
ExAC:
10:73545397 G / A
gnomAD v2:
10-73545397-G-A
gnomAD v3:
10-71785640-G-A
gnomAD v4:
10-71785640-G-A
COSMIC:
COSM2161168
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785640G>A , CM000672.2:g.71785640G>A | GRCh38 |
| NC_000010.10:g.73545397G>A , CM000672.1:g.73545397G>A | GRCh37 |
| NC_000010.9:g.73215403G>A | NCBI36 |
| NG_008835.1:g.393694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5722G>A MANE Select | ENSP00000224721.9:p.Val1908Ile | |
| ENST00000224721.10:c.5737G>A | ENSP00000224721.8:p.Val1913Ile | |
| ENST00000622827.4:c.5722G>A | ENSP00000483211.1:p.Val1908Ile | |
| NM_022124.5:c.5722G>A | NP_071407.4:p.Val1908Ile | |
| XM_006717940.2:c.5917G>A | XP_006718003.1:p.Val1973Ile | |
| XM_006717942.2:c.5851G>A | XP_006718005.1:p.Val1951Ile | |
| XM_011540039.1:c.5914G>A | XP_011538341.1:p.Val1972Ile | |
| XM_011540040.1:c.5911G>A | XP_011538342.1:p.Val1971Ile | |
| XM_011540041.1:c.5857G>A | XP_011538343.1:p.Val1953Ile | |
| XM_011540042.1:c.5917G>A | XP_011538344.1:p.Val1973Ile | |
| XM_011540043.1:c.5917G>A | XP_011538345.1:p.Val1973Ile | |
| XM_011540044.1:c.5782G>A | XP_011538346.1:p.Val1928Ile | |
| XM_011540045.1:c.5917G>A | XP_011538347.1:p.Val1973Ile | |
| XM_011540046.1:c.5377G>A | XP_011538348.1:p.Val1793Ile | |
| XM_011540047.1:c.4735G>A | XP_011538349.1:p.Val1579Ile | |
| XM_011540048.1:c.5917G>A | XP_011538350.1:p.Val1973Ile | |
| XM_011540049.1:c.5917G>A | XP_011538351.1:p.Val1973Ile | |
| XM_011540050.1:c.5917G>A | XP_011538352.1:p.Val1973Ile | |
| XM_011540051.1:c.5917G>A | XP_011538353.1:p.Val1973Ile | |
| XM_011540052.1:c.2245G>A | XP_011538354.1:p.Val749Ile | |
| XM_011540053.1:c.5917G>A | XP_011538355.1:p.Val1973Ile | |
| XR_945796.1:n.6160G>A | ||
| NM_022124.6:c.5722G>A MANE Select | NP_071407.4:p.Val1908Ile |