Linked Data
ClinVar Variation Id:
240219
ClinVar RCV Id:
RCV000229634
dbSNP Id:
rs749466673
gnomAD v2:
5-131930733-C-T
gnomAD v3:
5-132595041-C-T
gnomAD v4:
5-132595041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132595041C>T , CM000667.2:g.132595041C>T | GRCh38 |
| NC_000005.9:g.131930733C>T , CM000667.1:g.131930733C>T | GRCh37 |
| NC_000005.8:g.131958632C>T | NCBI36 |
| NG_021151.1:g.43118C>T | |
| NG_021151.2:g.43065C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1966C>T MANE Select | ENSP00000368100.4:p.Arg656Ter | |
| ENST00000638452.2:c.1669C>T | ENSP00000492349.2:p.Arg557Ter | |
| ENST00000638504.1:n.1480-63C>T | ||
| ENST00000638568.2:c.1669C>T | ENSP00000491158.2:p.Arg557Ter | |
| ENST00000639899.1:n.2485C>T | ||
| ENST00000640655.2:c.1669C>T | ENSP00000491596.2:p.Arg557Ter | |
| ENST00000651160.1:c.*16-63C>T | ENSP00000498829.1:n.*16-63C>T | |
| ENST00000651658.1:n.2509C>T | ||
| ENST00000651723.1:c.*2049C>T | ENSP00000498237.1:n.*2049C>T | |
| ENST00000652016.1:c.*89-63C>T | ENSP00000498267.1:n.*89-63C>T | |
| ENST00000652485.1:c.1999C>T | ENSP00000498973.1:p.Arg667Ter | |
| ENST00000378823.7:c.1966C>T | ENSP00000368100.4:p.Arg656Ter | |
| ENST00000423956.5:c.*152C>T | ENSP00000390971.1:n.*152C>T | |
| ENST00000453394.5:c.1783C>T | ENSP00000400049.1:p.Arg595Ter | |
| ENST00000533482.5:c.*1592C>T | ENSP00000431225.1:n.*1592C>T | |
| NM_005732.3:c.1966C>T | NP_005723.2:p.Arg656Ter | |
| NM_005732.4:c.1966C>T MANE Select | NP_005723.2:p.Arg656Ter |