Linked Data
ClinVar Variation Id:
46024
dbSNP Id:
rs111033495
ExAC:
10:73558271 G / T
gnomAD v2:
10-73558271-G-T
gnomAD v3:
10-71798514-G-T
gnomAD v4:
10-71798514-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798514G>T , CM000672.2:g.71798514G>T | GRCh38 |
| NC_000010.10:g.73558271G>T , CM000672.1:g.73558271G>T | GRCh37 |
| NC_000010.9:g.73228277G>T | NCBI36 |
| NG_008835.1:g.406568G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6990G>T MANE Select | ENSP00000224721.9:p.Leu2330= | |
| ENST00000642965.1:c.923G>T | ENSP00000495222.1:n.923G>T | |
| ENST00000647092.1:c.587G>T | ENSP00000495176.1:n.587G>T | |
| ENST00000224721.10:c.7005G>T | ENSP00000224721.8:p.Leu2335= | |
| ENST00000398788.4:c.270G>T | ENSP00000381768.3:p.Leu90= | |
| ENST00000475158.1:n.526G>T | ||
| ENST00000619887.4:c.270G>T | ENSP00000478374.1:p.Leu90= | |
| ENST00000622827.4:c.6990G>T | ENSP00000483211.1:p.Leu2330= | |
| NM_001171933.1:c.270G>T | NP_001165404.1:p.Leu90= | |
| NM_001171934.1:c.270G>T | NP_001165405.1:p.Leu90= | |
| NM_022124.5:c.6990G>T | NP_071407.4:p.Leu2330= | |
| XM_006717940.2:c.7185G>T | XP_006718003.1:p.Leu2395= | |
| XM_006717942.2:c.7119G>T | XP_006718005.1:p.Leu2373= | |
| XM_011540039.1:c.7182G>T | XP_011538341.1:p.Leu2394= | |
| XM_011540040.1:c.7179G>T | XP_011538342.1:p.Leu2393= | |
| XM_011540041.1:c.7125G>T | XP_011538343.1:p.Leu2375= | |
| XM_011540042.1:c.7095G>T | XP_011538344.1:p.Leu2365= | |
| XM_011540043.1:c.7185G>T | XP_011538345.1:p.Leu2395= | |
| XM_011540044.1:c.7050G>T | XP_011538346.1:p.Leu2350= | |
| XM_011540045.1:c.7185G>T | XP_011538347.1:p.Leu2395= | |
| XM_011540046.1:c.6645G>T | XP_011538348.1:p.Leu2215= | |
| XM_011540047.1:c.6003G>T | XP_011538349.1:p.Leu2001= | |
| XM_011540052.1:c.3513G>T | XP_011538354.1:p.Leu1171= | |
| NM_022124.6:c.6990G>T MANE Select | NP_071407.4:p.Leu2330= |