Linked Data
ClinVar Variation Id:
94171
dbSNP Id:
rs398123719
ExAC:
12:49422910 G / A
gnomAD v2:
12-49422910-G-A
gnomAD v3:
12-49029127-G-A
gnomAD v4:
12-49029127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49029127G>A , CM000674.2:g.49029127G>A | GRCh38 |
| NC_000012.11:g.49422910G>A , CM000674.1:g.49422910G>A | GRCh37 |
| NC_000012.10:g.47709177G>A | NCBI36 |
| NG_027827.1:g.31198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.14185C>T | ENSP00000506726.1:p.Arg4729Trp | |
| ENST00000685166.1:c.14194C>T | ENSP00000509386.1:p.Arg4732Trp | |
| ENST00000685979.1:c.448C>T | ENSP00000508906.1:p.Arg150Trp | |
| ENST00000686564.1:c.445C>T | ENSP00000509290.1:p.Arg149Trp | |
| ENST00000687241.1:c.277C>T | ENSP00000509842.1:p.Arg93Trp | |
| ENST00000691986.1:c.484C>T | ENSP00000509196.1:p.Arg162Trp | |
| ENST00000692637.1:c.14182C>T | ENSP00000509666.1:p.Arg4728Trp | |
| ENST00000301067.12:c.14185C>T MANE Select | ENSP00000301067.7:p.Arg4729Trp | |
| ENST00000301067.11:c.14185C>T | ENSP00000301067.7:p.Arg4729Trp | |
| NM_003482.3:c.14185C>T | NP_003473.3:p.Arg4729Trp | |
| XM_005269162.3:c.14185C>T | XP_005269219.1:p.Arg4729Trp | |
| XM_006719614.2:c.14194C>T | XP_006719677.1:p.Arg4732Trp | |
| XM_006719616.2:c.14182C>T | XP_006719679.1:p.Arg4728Trp | |
| XM_011538770.1:c.14194C>T | XP_011537072.1:p.Arg4732Trp | |
| XM_011538771.1:c.14191C>T | XP_011537073.1:p.Arg4731Trp | |
| XM_011538772.1:c.14185C>T | XP_011537074.1:p.Arg4729Trp | |
| XM_011538773.1:c.14182C>T | XP_011537075.1:p.Arg4728Trp | |
| XM_011538774.1:c.14173C>T | XP_011537076.1:p.Arg4725Trp | |
| XM_011538775.1:c.14128C>T | XP_011537077.1:p.Arg4710Trp | |
| XM_011538776.1:c.14101C>T | XP_011537078.1:p.Arg4701Trp | |
| XR_944740.1:n.16514C>T | ||
| XM_005269162.4:c.14185C>T | XP_005269219.1:p.Arg4729Trp | |
| XM_006719614.4:c.14194C>T | XP_006719677.1:p.Arg4732Trp | |
| XM_006719616.3:c.14182C>T | XP_006719679.1:p.Arg4728Trp | |
| XM_011538770.2:c.14194C>T | XP_011537072.1:p.Arg4732Trp | |
| XM_011538771.2:c.14191C>T | XP_011537073.1:p.Arg4731Trp | |
| XM_011538772.2:c.14185C>T | XP_011537074.1:p.Arg4729Trp | |
| XM_011538773.2:c.14182C>T | XP_011537075.1:p.Arg4728Trp | |
| XM_011538774.2:c.14173C>T | XP_011537076.1:p.Arg4725Trp | |
| XM_011538776.2:c.14101C>T | XP_011537078.1:p.Arg4701Trp | |
| XR_001748874.1:n.15503C>T | ||
| NM_003482.4:c.14185C>T MANE Select | NP_003473.3:p.Arg4729Trp |