Linked Data
ClinVar Variation Id:
46020
dbSNP Id:
rs56013867
ExAC:
10:73558133 G / C
gnomAD v2:
10-73558133-G-C
gnomAD v3:
10-71798376-G-C
gnomAD v4:
10-71798376-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798376G>C , CM000672.2:g.71798376G>C | GRCh38 |
| NC_000010.10:g.73558133G>C , CM000672.1:g.73558133G>C | GRCh37 |
| NC_000010.9:g.73228139G>C | NCBI36 |
| NG_008835.1:g.406430G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6852G>C MANE Select | ENSP00000224721.9:p.Leu2284= | |
| ENST00000642965.1:c.785G>C | ENSP00000495222.1:n.785G>C | |
| ENST00000647092.1:c.449G>C | ENSP00000495176.1:n.449G>C | |
| ENST00000224721.10:c.6867G>C | ENSP00000224721.8:p.Leu2289= | |
| ENST00000398788.4:c.132G>C | ENSP00000381768.3:p.Leu44= | |
| ENST00000475158.1:n.388G>C | ||
| ENST00000619887.4:c.132G>C | ENSP00000478374.1:p.Leu44= | |
| ENST00000622827.4:c.6852G>C | ENSP00000483211.1:p.Leu2284= | |
| NM_001171933.1:c.132G>C | NP_001165404.1:p.Leu44= | |
| NM_001171934.1:c.132G>C | NP_001165405.1:p.Leu44= | |
| NM_022124.5:c.6852G>C | NP_071407.4:p.Leu2284= | |
| XM_006717940.2:c.7047G>C | XP_006718003.1:p.Leu2349= | |
| XM_006717942.2:c.6981G>C | XP_006718005.1:p.Leu2327= | |
| XM_011540039.1:c.7044G>C | XP_011538341.1:p.Leu2348= | |
| XM_011540040.1:c.7041G>C | XP_011538342.1:p.Leu2347= | |
| XM_011540041.1:c.6987G>C | XP_011538343.1:p.Leu2329= | |
| XM_011540042.1:c.6957G>C | XP_011538344.1:p.Leu2319= | |
| XM_011540043.1:c.7047G>C | XP_011538345.1:p.Leu2349= | |
| XM_011540044.1:c.6912G>C | XP_011538346.1:p.Leu2304= | |
| XM_011540045.1:c.7047G>C | XP_011538347.1:p.Leu2349= | |
| XM_011540046.1:c.6507G>C | XP_011538348.1:p.Leu2169= | |
| XM_011540047.1:c.5865G>C | XP_011538349.1:p.Leu1955= | |
| XM_011540052.1:c.3375G>C | XP_011538354.1:p.Leu1125= | |
| NM_022124.6:c.6852G>C MANE Select | NP_071407.4:p.Leu2284= |