Linked Data
ClinVar Variation Id:
1575697
ClinVar RCV Id:
RCV002092932
dbSNP Id:
rs2107168711
MyVariant Identifiers:
chr3:g.81754605A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705454A>G , CM000665.2:g.81705454A>G | GRCh38 |
| NC_000003.11:g.81754605A>G , CM000665.1:g.81754605A>G | GRCh37 |
| NC_000003.10:g.81837295A>G | NCBI36 |
| NG_011810.1:g.61347T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.303T>C MANE Select | ENSP00000410833.2:p.Thr101= | |
| ENST00000429644.6:c.303T>C | ENSP00000410833.2:p.Thr101= | |
| ENST00000489715.1:c.180T>C | ENSP00000419638.1:p.Thr60= | |
| NM_000158.3:c.303T>C | NP_000149.3:p.Thr101= | |
| NM_000158.4:c.303T>C MANE Select | NP_000149.4:p.Thr101= |