Linked Data
ClinVar Variation Id:
280531
ClinVar RCV Id:
RCV000362788
dbSNP Id:
rs886041719
gnomAD v4:
6-84737224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.84737224G>A , CM000668.2:g.84737224G>A | GRCh38 |
| NC_000006.11:g.85446942G>A , CM000668.1:g.85446942G>A | GRCh37 |
| NC_000006.10:g.85503661G>A | NCBI36 |
| NG_046956.1:g.32507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369663.10:c.1285C>T MANE Select | ENSP00000358677.4:p.Arg429Ter | |
| ENST00000369663.9:c.1285C>T | ENSP00000358677.4:p.Arg429Ter | |
| ENST00000606784.5:c.625+1273C>T | ENSP00000475873.1:n.625+1273C>T | |
| NM_001080508.2:c.1285C>T | NP_001073977.1:p.Arg429Ter | |
| XM_006715602.2:c.1099+1273C>T | XP_006715665.1:n.1099+1273C>T | |
| XM_011536247.1:c.1099+1273C>T | XP_011534549.1:n.1099+1273C>T | |
| XM_011536248.1:c.1099+1273C>T | XP_011534550.1:n.1099+1273C>T | |
| XM_011536249.1:c.1099+1273C>T | XP_011534551.1:n.1099+1273C>T | |
| XM_006715602.3:c.1066+1273C>T | XP_006715665.2:n.1066+1273C>T | |
| XM_011536247.2:c.1066+1273C>T | XP_011534549.2:n.1066+1273C>T | |
| XM_011536248.2:c.1066+1273C>T | XP_011534550.2:n.1066+1273C>T | |
| XM_011536249.2:c.1066+1273C>T | XP_011534551.2:n.1066+1273C>T | |
| XM_017011472.1:c.811C>T | XP_016866961.1:p.Arg271Ter | |
| XM_017011473.2:c.1066+1273C>T | XP_016866962.1:n.1066+1273C>T | |
| NM_001080508.3:c.1285C>T MANE Select | NP_001073977.1:p.Arg429Ter |