Linked Data
ClinVar Variation Id:
46078
dbSNP Id:
rs111033457
ExAC:
10:73573037 C / T
gnomAD v2:
10-73573037-C-T
gnomAD v3:
10-71813280-C-T
gnomAD v4:
10-71813280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71813280C>T , CM000672.2:g.71813280C>T | GRCh38 |
| NC_000010.10:g.73573037C>T , CM000672.1:g.73573037C>T | GRCh37 |
| NC_000010.9:g.73243043C>T | NCBI36 |
| NG_008835.1:g.421334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9670C>T MANE Select | ENSP00000224721.9:p.Arg3224Trp | |
| ENST00000642965.1:c.3603C>T | ENSP00000495222.1:n.3603C>T | |
| ENST00000647092.1:c.3230+390C>T | ENSP00000495176.1:n.3230+390C>T | |
| ENST00000224721.10:c.9685C>T | ENSP00000224721.8:p.Arg3229Trp | |
| ENST00000398788.4:c.2950C>T | ENSP00000381768.3:p.Arg984Trp | |
| ENST00000475158.1:n.3169+390C>T | ||
| ENST00000619887.4:c.2913+390C>T | ENSP00000478374.1:n.2913+390C>T | |
| ENST00000622827.4:c.9670C>T | ENSP00000483211.1:p.Arg3224Trp | |
| NM_001171933.1:c.2950C>T | NP_001165404.1:p.Arg984Trp | |
| NM_001171934.1:c.2913+390C>T | NP_001165405.1:n.2913+390C>T | |
| NM_001171935.1:c.361C>T | NP_001165406.1:p.Arg121Trp | |
| NM_001171936.1:c.324+390C>T | NP_001165407.1:n.324+390C>T | |
| NM_022124.5:c.9670C>T | NP_071407.4:p.Arg3224Trp | |
| XM_006717940.2:c.9865C>T | XP_006718003.1:p.Arg3289Trp | |
| XM_006717942.2:c.9799C>T | XP_006718005.1:p.Arg3267Trp | |
| XM_011540039.1:c.9862C>T | XP_011538341.1:p.Arg3288Trp | |
| XM_011540040.1:c.9859C>T | XP_011538342.1:p.Arg3287Trp | |
| XM_011540041.1:c.9805C>T | XP_011538343.1:p.Arg3269Trp | |
| XM_011540042.1:c.9775C>T | XP_011538344.1:p.Arg3259Trp | |
| XM_011540043.1:c.9828+390C>T | XP_011538345.1:n.9828+390C>T | |
| XM_011540044.1:c.9730C>T | XP_011538346.1:p.Arg3244Trp | |
| XM_011540045.1:c.9865C>T | XP_011538347.1:p.Arg3289Trp | |
| XM_011540046.1:c.9325C>T | XP_011538348.1:p.Arg3109Trp | |
| XM_011540047.1:c.8683C>T | XP_011538349.1:p.Arg2895Trp | |
| XM_011540052.1:c.6193C>T | XP_011538354.1:p.Arg2065Trp | |
| NM_022124.6:c.9670C>T MANE Select | NP_071407.4:p.Arg3224Trp |