Linked Data
ClinVar Variation Id:
1009489
dbSNP Id:
rs756231829
ExAC:
10:73498294 C / T
gnomAD v2:
10-73498294-C-T
gnomAD v3:
10-71738537-C-T
gnomAD v4:
10-71738537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71738537C>T , CM000672.2:g.71738537C>T | GRCh38 |
| NC_000010.10:g.73498294C>T , CM000672.1:g.73498294C>T | GRCh37 |
| NC_000010.9:g.73168300C>T | NCBI36 |
| NG_008835.1:g.346591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4249C>T MANE Select | ENSP00000224721.9:p.Arg1417Trp | |
| ENST00000224721.10:c.4264C>T | ENSP00000224721.8:p.Arg1422Trp | |
| ENST00000398792.3:n.938C>T | ||
| ENST00000622827.4:c.4249C>T | ENSP00000483211.1:p.Arg1417Trp | |
| NM_022124.5:c.4249C>T | NP_071407.4:p.Arg1417Trp | |
| XM_006717940.2:c.4444C>T | XP_006718003.1:p.Arg1482Trp | |
| XM_006717942.2:c.4378C>T | XP_006718005.1:p.Arg1460Trp | |
| XM_011540039.1:c.4441C>T | XP_011538341.1:p.Arg1481Trp | |
| XM_011540040.1:c.4438C>T | XP_011538342.1:p.Arg1480Trp | |
| XM_011540041.1:c.4384C>T | XP_011538343.1:p.Arg1462Trp | |
| XM_011540042.1:c.4444C>T | XP_011538344.1:p.Arg1482Trp | |
| XM_011540043.1:c.4444C>T | XP_011538345.1:p.Arg1482Trp | |
| XM_011540044.1:c.4309C>T | XP_011538346.1:p.Arg1437Trp | |
| XM_011540045.1:c.4444C>T | XP_011538347.1:p.Arg1482Trp | |
| XM_011540046.1:c.3904C>T | XP_011538348.1:p.Arg1302Trp | |
| XM_011540047.1:c.3262C>T | XP_011538349.1:p.Arg1088Trp | |
| XM_011540048.1:c.4444C>T | XP_011538350.1:p.Arg1482Trp | |
| XM_011540049.1:c.4444C>T | XP_011538351.1:p.Arg1482Trp | |
| XM_011540050.1:c.4444C>T | XP_011538352.1:p.Arg1482Trp | |
| XM_011540051.1:c.4444C>T | XP_011538353.1:p.Arg1482Trp | |
| XM_011540052.1:c.772C>T | XP_011538354.1:p.Arg258Trp | |
| XM_011540053.1:c.4444C>T | XP_011538355.1:p.Arg1482Trp | |
| XR_945796.1:n.4687C>T | ||
| NM_022124.6:c.4249C>T MANE Select | NP_071407.4:p.Arg1417Trp |