Linked Data
ClinVar Variation Id:
46061
dbSNP Id:
rs111583276
ExAC:
10:73570217 C / T
gnomAD v2:
10-73570217-C-T
gnomAD v3:
10-71810460-C-T
gnomAD v4:
10-71810460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71810460C>T , CM000672.2:g.71810460C>T | GRCh38 |
| NC_000010.10:g.73570217C>T , CM000672.1:g.73570217C>T | GRCh37 |
| NC_000010.9:g.73240223C>T | NCBI36 |
| NG_008835.1:g.418514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8980-12C>T MANE Select | ENSP00000224721.9:n.8980-12C>T | |
| ENST00000642965.1:c.2913-12C>T | ENSP00000495222.1:n.2913-12C>T | |
| ENST00000647092.1:c.2577-12C>T | ENSP00000495176.1:n.2577-12C>T | |
| ENST00000224721.10:c.8995-12C>T | ENSP00000224721.8:n.8995-12C>T | |
| ENST00000398788.4:c.2260-12C>T | ENSP00000381768.3:n.2260-12C>T | |
| ENST00000475158.1:n.2516-12C>T | ||
| ENST00000619887.4:c.2260-12C>T | ENSP00000478374.1:n.2260-12C>T | |
| ENST00000622827.4:c.8980-12C>T | ENSP00000483211.1:n.8980-12C>T | |
| NM_001171933.1:c.2260-12C>T | NP_001165404.1:n.2260-12C>T | |
| NM_001171934.1:c.2260-12C>T | NP_001165405.1:n.2260-12C>T | |
| NM_022124.5:c.8980-12C>T | NP_071407.4:n.8980-12C>T | |
| XM_006717940.2:c.9175-12C>T | XP_006718003.1:n.9175-12C>T | |
| XM_006717942.2:c.9109-12C>T | XP_006718005.1:n.9109-12C>T | |
| XM_011540039.1:c.9172-12C>T | XP_011538341.1:n.9172-12C>T | |
| XM_011540040.1:c.9169-12C>T | XP_011538342.1:n.9169-12C>T | |
| XM_011540041.1:c.9115-12C>T | XP_011538343.1:n.9115-12C>T | |
| XM_011540042.1:c.9085-12C>T | XP_011538344.1:n.9085-12C>T | |
| XM_011540043.1:c.9175-12C>T | XP_011538345.1:n.9175-12C>T | |
| XM_011540044.1:c.9040-12C>T | XP_011538346.1:n.9040-12C>T | |
| XM_011540045.1:c.9175-12C>T | XP_011538347.1:n.9175-12C>T | |
| XM_011540046.1:c.8635-12C>T | XP_011538348.1:n.8635-12C>T | |
| XM_011540047.1:c.7993-12C>T | XP_011538349.1:n.7993-12C>T | |
| XM_011540052.1:c.5503-12C>T | XP_011538354.1:n.5503-12C>T | |
| NM_022124.6:c.8980-12C>T MANE Select | NP_071407.4:n.8980-12C>T |