Linked Data
ClinVar Variation Id:
531888
dbSNP Id:
rs1422752351
gnomAD v2:
12-49416133-G-A
gnomAD v4:
12-49022350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022350G>A , CM000674.2:g.49022350G>A | GRCh38 |
| NC_000012.11:g.49416133G>A , CM000674.1:g.49416133G>A | GRCh37 |
| NC_000012.10:g.47702400G>A | NCBI36 |
| NG_027827.1:g.37975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.312C>T | ||
| ENST00000681974.1:n.1014C>T | ||
| ENST00000682693.1:n.1976C>T | ||
| ENST00000682886.1:n.748C>T | ||
| ENST00000683543.2:c.16390C>T | ENSP00000506726.1:p.Arg5464Ter | |
| ENST00000683988.1:c.313C>T | ENSP00000506939.1:p.Arg105Ter | |
| ENST00000684428.1:c.935C>T | ENSP00000507433.1:p.Ser312Leu | |
| ENST00000685024.1:c.1496C>T | ||
| ENST00000685166.1:c.16351C>T | ENSP00000509386.1:p.Arg5451Ter | |
| ENST00000691932.1:c.343C>T | ENSP00000509037.1:p.Arg115Ter | |
| ENST00000692637.1:c.16339C>T | ENSP00000509666.1:p.Arg5447Ter | |
| ENST00000301067.12:c.16342C>T MANE Select | ENSP00000301067.7:p.Arg5448Ter | |
| ENST00000301067.11:c.16342C>T | ENSP00000301067.7:p.Arg5448Ter | |
| ENST00000526209.1:c.385C>T | ENSP00000435714.1:p.Arg129Ter | |
| NM_003482.3:c.16342C>T | NP_003473.3:p.Arg5448Ter | |
| XM_005269162.3:c.16342C>T | XP_005269219.1:p.Arg5448Ter | |
| XM_006719614.2:c.16351C>T | XP_006719677.1:p.Arg5451Ter | |
| XM_006719616.2:c.16339C>T | XP_006719679.1:p.Arg5447Ter | |
| XM_011538770.1:c.16399C>T | XP_011537072.1:p.Arg5467Ter | |
| XM_011538771.1:c.16396C>T | XP_011537073.1:p.Arg5466Ter | |
| XM_011538772.1:c.16390C>T | XP_011537074.1:p.Arg5464Ter | |
| XM_011538773.1:c.16387C>T | XP_011537075.1:p.Arg5463Ter | |
| XM_011538774.1:c.16378C>T | XP_011537076.1:p.Arg5460Ter | |
| XM_011538775.1:c.16333C>T | XP_011537077.1:p.Arg5445Ter | |
| XM_011538776.1:c.16306C>T | XP_011537078.1:p.Arg5436Ter | |
| XM_005269162.4:c.16342C>T | XP_005269219.1:p.Arg5448Ter | |
| XM_006719614.4:c.16351C>T | XP_006719677.1:p.Arg5451Ter | |
| XM_006719616.3:c.16339C>T | XP_006719679.1:p.Arg5447Ter | |
| XM_011538770.2:c.16399C>T | XP_011537072.1:p.Arg5467Ter | |
| XM_011538771.2:c.16396C>T | XP_011537073.1:p.Arg5466Ter | |
| XM_011538772.2:c.16390C>T | XP_011537074.1:p.Arg5464Ter | |
| XM_011538773.2:c.16387C>T | XP_011537075.1:p.Arg5463Ter | |
| XM_011538774.2:c.16378C>T | XP_011537076.1:p.Arg5460Ter | |
| XM_011538776.2:c.16306C>T | XP_011537078.1:p.Arg5436Ter | |
| XR_001748874.1:n.16519C>T | ||
| NM_003482.4:c.16342C>T MANE Select | NP_003473.3:p.Arg5448Ter |