Linked Data
ClinVar Variation Id:
1580856
ClinVar RCV Id:
RCV002094925
dbSNP Id:
rs2125130723
gnomAD v4:
3-10149893-C-T
COSMIC:
COSM5455113
MyVariant Identifiers:
chr3:g.10191577C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149893C>T , CM000665.2:g.10149893C>T | GRCh38 |
| NC_000003.11:g.10191577C>T , CM000665.1:g.10191577C>T | GRCh37 |
| NC_000003.10:g.10166577C>T | NCBI36 |
| NG_008212.3:g.13259C>T , LRG_322:g.13259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*247C>T | ENSP00000512434.1:n.*247C>T | |
| ENST00000696143.1:c.706C>T | ENSP00000512435.1:n.706C>T | |
| ENST00000696153.1:c.681C>T | ENSP00000512444.1:p.Asp227= | |
| ENST00000256474.3:c.570C>T MANE Select | ENSP00000256474.3:p.Asp190= | |
| ENST00000256474.2:c.570C>T | ENSP00000256474.2:p.Asp190= | |
| ENST00000345392.2:c.447C>T | ENSP00000344757.2:p.Asp149= | |
| ENST00000477538.1:n.706C>T | ||
| NM_000551.3:c.570C>T , LRG_322t1:c.570C>T | NP_000542.1:p.Asp190= | |
| NM_198156.2:c.447C>T | NP_937799.1:p.Asp149= | |
| NM_001354723.1:c.*124C>T | NP_001341652.1:n.*124C>T | |
| NM_000551.4:c.570C>T MANE Select | NP_000542.1:p.Asp190= | |
| NM_001354723.2:c.*124C>T | NP_001341652.1:n.*124C>T | |
| NM_198156.3:c.447C>T | NP_937799.1:p.Asp149= |