Linked Data
ClinVar Variation Id:
2636226
ClinVar RCV Id:
RCV004534385
dbSNP Id:
rs1314343736
gnomAD v2:
12-49416399-G-A
gnomAD v4:
12-49022616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022616G>A , CM000674.2:g.49022616G>A | GRCh38 |
| NC_000012.11:g.49416399G>A , CM000674.1:g.49416399G>A | GRCh37 |
| NC_000012.10:g.47702666G>A | NCBI36 |
| NG_027827.1:g.37709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.282C>T | ||
| ENST00000681974.1:n.984C>T | ||
| ENST00000682693.1:n.1946C>T | ||
| ENST00000682886.1:n.482C>T | ||
| ENST00000683543.2:c.16360C>T | ENSP00000506726.1:p.Arg5454Trp | |
| ENST00000683988.1:c.283C>T | ENSP00000506939.1:p.Arg95Trp | |
| ENST00000684428.1:c.847C>T | ENSP00000507433.1:p.Arg283Trp | |
| ENST00000684755.1:n.895C>T | ||
| ENST00000685024.1:c.1466C>T | ||
| ENST00000685166.1:c.16321C>T | ENSP00000509386.1:p.Arg5441Trp | |
| ENST00000688411.1:c.789C>T | ENSP00000510146.1:n.789C>T | |
| ENST00000691932.1:c.313C>T | ENSP00000509037.1:p.Arg105Trp | |
| ENST00000692637.1:c.16309C>T | ENSP00000509666.1:p.Arg5437Trp | |
| ENST00000301067.12:c.16312C>T MANE Select | ENSP00000301067.7:p.Arg5438Trp | |
| ENST00000301067.11:c.16312C>T | ENSP00000301067.7:p.Arg5438Trp | |
| ENST00000526209.1:c.355C>T | ENSP00000435714.1:p.Arg119Trp | |
| NM_003482.3:c.16312C>T | NP_003473.3:p.Arg5438Trp | |
| XM_005269162.3:c.16312C>T | XP_005269219.1:p.Arg5438Trp | |
| XM_006719614.2:c.16321C>T | XP_006719677.1:p.Arg5441Trp | |
| XM_006719616.2:c.16309C>T | XP_006719679.1:p.Arg5437Trp | |
| XM_011538770.1:c.16369C>T | XP_011537072.1:p.Arg5457Trp | |
| XM_011538771.1:c.16366C>T | XP_011537073.1:p.Arg5456Trp | |
| XM_011538772.1:c.16360C>T | XP_011537074.1:p.Arg5454Trp | |
| XM_011538773.1:c.16357C>T | XP_011537075.1:p.Arg5453Trp | |
| XM_011538774.1:c.16348C>T | XP_011537076.1:p.Arg5450Trp | |
| XM_011538775.1:c.16303C>T | XP_011537077.1:p.Arg5435Trp | |
| XM_011538776.1:c.16276C>T | XP_011537078.1:p.Arg5426Trp | |
| XM_005269162.4:c.16312C>T | XP_005269219.1:p.Arg5438Trp | |
| XM_006719614.4:c.16321C>T | XP_006719677.1:p.Arg5441Trp | |
| XM_006719616.3:c.16309C>T | XP_006719679.1:p.Arg5437Trp | |
| XM_011538770.2:c.16369C>T | XP_011537072.1:p.Arg5457Trp | |
| XM_011538771.2:c.16366C>T | XP_011537073.1:p.Arg5456Trp | |
| XM_011538772.2:c.16360C>T | XP_011537074.1:p.Arg5454Trp | |
| XM_011538773.2:c.16357C>T | XP_011537075.1:p.Arg5453Trp | |
| XM_011538774.2:c.16348C>T | XP_011537076.1:p.Arg5450Trp | |
| XM_011538776.2:c.16276C>T | XP_011537078.1:p.Arg5426Trp | |
| XR_001748874.1:n.16489C>T | ||
| NM_003482.4:c.16312C>T MANE Select | NP_003473.3:p.Arg5438Trp |