Linked Data
ClinVar Variation Id:
300454
dbSNP Id:
rs78158757
ExAC:
10:73559400 G / A
gnomAD v2:
10-73559400-G-A
gnomAD v3:
10-71799643-G-A
gnomAD v4:
10-71799643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71799643G>A , CM000672.2:g.71799643G>A | GRCh38 |
| NC_000010.10:g.73559400G>A , CM000672.1:g.73559400G>A | GRCh37 |
| NC_000010.9:g.73229406G>A | NCBI36 |
| NG_008835.1:g.407697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7362+14G>A MANE Select | ENSP00000224721.9:n.7362+14G>A | |
| ENST00000642965.1:c.1295+14G>A | ENSP00000495222.1:n.1295+14G>A | |
| ENST00000647092.1:c.959+14G>A | ENSP00000495176.1:n.959+14G>A | |
| ENST00000224721.10:c.7377+14G>A | ENSP00000224721.8:n.7377+14G>A | |
| ENST00000398788.4:c.642+14G>A | ENSP00000381768.3:n.642+14G>A | |
| ENST00000475158.1:n.898+14G>A | ||
| ENST00000619887.4:c.642+14G>A | ENSP00000478374.1:n.642+14G>A | |
| ENST00000622827.4:c.7362+14G>A | ENSP00000483211.1:n.7362+14G>A | |
| NM_001171933.1:c.642+14G>A | NP_001165404.1:n.642+14G>A | |
| NM_001171934.1:c.642+14G>A | NP_001165405.1:n.642+14G>A | |
| NM_022124.5:c.7362+14G>A | NP_071407.4:n.7362+14G>A | |
| XM_006717940.2:c.7557+14G>A | XP_006718003.1:n.7557+14G>A | |
| XM_006717942.2:c.7491+14G>A | XP_006718005.1:n.7491+14G>A | |
| XM_011540039.1:c.7554+14G>A | XP_011538341.1:n.7554+14G>A | |
| XM_011540040.1:c.7551+14G>A | XP_011538342.1:n.7551+14G>A | |
| XM_011540041.1:c.7497+14G>A | XP_011538343.1:n.7497+14G>A | |
| XM_011540042.1:c.7467+14G>A | XP_011538344.1:n.7467+14G>A | |
| XM_011540043.1:c.7557+14G>A | XP_011538345.1:n.7557+14G>A | |
| XM_011540044.1:c.7422+14G>A | XP_011538346.1:n.7422+14G>A | |
| XM_011540045.1:c.7557+14G>A | XP_011538347.1:n.7557+14G>A | |
| XM_011540046.1:c.7017+14G>A | XP_011538348.1:n.7017+14G>A | |
| XM_011540047.1:c.6375+14G>A | XP_011538349.1:n.6375+14G>A | |
| XM_011540052.1:c.3885+14G>A | XP_011538354.1:n.3885+14G>A | |
| NM_022124.6:c.7362+14G>A MANE Select | NP_071407.4:n.7362+14G>A |