Linked Data
ClinVar Variation Id:
794459
ClinVar RCV Id:
RCV000977715
dbSNP Id:
rs768052403
ExAC:
10:73558319 G / A
gnomAD v2:
10-73558319-G-A
gnomAD v4:
10-71798562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798562G>A , CM000672.2:g.71798562G>A | GRCh38 |
| NC_000010.10:g.73558319G>A , CM000672.1:g.73558319G>A | GRCh37 |
| NC_000010.9:g.73228325G>A | NCBI36 |
| NG_008835.1:g.406616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7038G>A MANE Select | ENSP00000224721.9:p.Leu2346= | |
| ENST00000642965.1:c.971G>A | ENSP00000495222.1:n.971G>A | |
| ENST00000647092.1:c.635G>A | ENSP00000495176.1:n.635G>A | |
| ENST00000224721.10:c.7053G>A | ENSP00000224721.8:p.Leu2351= | |
| ENST00000398788.4:c.318G>A | ENSP00000381768.3:p.Leu106= | |
| ENST00000475158.1:n.574G>A | ||
| ENST00000619887.4:c.318G>A | ENSP00000478374.1:p.Leu106= | |
| ENST00000622827.4:c.7038G>A | ENSP00000483211.1:p.Leu2346= | |
| NM_001171933.1:c.318G>A | NP_001165404.1:p.Leu106= | |
| NM_001171934.1:c.318G>A | NP_001165405.1:p.Leu106= | |
| NM_022124.5:c.7038G>A | NP_071407.4:p.Leu2346= | |
| XM_006717940.2:c.7233G>A | XP_006718003.1:p.Leu2411= | |
| XM_006717942.2:c.7167G>A | XP_006718005.1:p.Leu2389= | |
| XM_011540039.1:c.7230G>A | XP_011538341.1:p.Leu2410= | |
| XM_011540040.1:c.7227G>A | XP_011538342.1:p.Leu2409= | |
| XM_011540041.1:c.7173G>A | XP_011538343.1:p.Leu2391= | |
| XM_011540042.1:c.7143G>A | XP_011538344.1:p.Leu2381= | |
| XM_011540043.1:c.7233G>A | XP_011538345.1:p.Leu2411= | |
| XM_011540044.1:c.7098G>A | XP_011538346.1:p.Leu2366= | |
| XM_011540045.1:c.7233G>A | XP_011538347.1:p.Leu2411= | |
| XM_011540046.1:c.6693G>A | XP_011538348.1:p.Leu2231= | |
| XM_011540047.1:c.6051G>A | XP_011538349.1:p.Leu2017= | |
| XM_011540052.1:c.3561G>A | XP_011538354.1:p.Leu1187= | |
| NM_022124.6:c.7038G>A MANE Select | NP_071407.4:p.Leu2346= |