Linked Data
ClinVar Variation Id:
46048
dbSNP Id:
rs369697366
ExAC:
10:73567371 G / A
gnomAD v2:
10-73567371-G-A
gnomAD v3:
10-71807614-G-A
gnomAD v4:
10-71807614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71807614G>A , CM000672.2:g.71807614G>A | GRCh38 |
| NC_000010.10:g.73567371G>A , CM000672.1:g.73567371G>A | GRCh37 |
| NC_000010.9:g.73237377G>A | NCBI36 |
| NG_008835.1:g.415668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8407G>A MANE Select | ENSP00000224721.9:p.Val2803Ile | |
| ENST00000642965.1:c.2340G>A | ENSP00000495222.1:n.2340G>A | |
| ENST00000647092.1:c.2004G>A | ENSP00000495176.1:n.2004G>A | |
| ENST00000224721.10:c.8422G>A | ENSP00000224721.8:p.Val2808Ile | |
| ENST00000398788.4:c.1687G>A | ENSP00000381768.3:p.Val563Ile | |
| ENST00000475158.1:n.1943G>A | ||
| ENST00000619887.4:c.1687G>A | ENSP00000478374.1:p.Val563Ile | |
| ENST00000622827.4:c.8407G>A | ENSP00000483211.1:p.Val2803Ile | |
| NM_001171933.1:c.1687G>A | NP_001165404.1:p.Val563Ile | |
| NM_001171934.1:c.1687G>A | NP_001165405.1:p.Val563Ile | |
| NM_022124.5:c.8407G>A | NP_071407.4:p.Val2803Ile | |
| XM_006717940.2:c.8602G>A | XP_006718003.1:p.Val2868Ile | |
| XM_006717942.2:c.8536G>A | XP_006718005.1:p.Val2846Ile | |
| XM_011540039.1:c.8599G>A | XP_011538341.1:p.Val2867Ile | |
| XM_011540040.1:c.8596G>A | XP_011538342.1:p.Val2866Ile | |
| XM_011540041.1:c.8542G>A | XP_011538343.1:p.Val2848Ile | |
| XM_011540042.1:c.8512G>A | XP_011538344.1:p.Val2838Ile | |
| XM_011540043.1:c.8602G>A | XP_011538345.1:p.Val2868Ile | |
| XM_011540044.1:c.8467G>A | XP_011538346.1:p.Val2823Ile | |
| XM_011540045.1:c.8602G>A | XP_011538347.1:p.Val2868Ile | |
| XM_011540046.1:c.8062G>A | XP_011538348.1:p.Val2688Ile | |
| XM_011540047.1:c.7420G>A | XP_011538349.1:p.Val2474Ile | |
| XM_011540052.1:c.4930G>A | XP_011538354.1:p.Val1644Ile | |
| NM_022124.6:c.8407G>A MANE Select | NP_071407.4:p.Val2803Ile |