Linked Data
ClinVar Variation Id:
2192949
ClinVar RCV Id:
RCV002607737
dbSNP Id:
rs1013744464
gnomAD v3:
1-42929706-T-C
gnomAD v4:
1-42929706-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929706T>C , CM000663.2:g.42929706T>C | GRCh38 |
| NC_000001.10:g.43395377T>C , CM000663.1:g.43395377T>C | GRCh37 |
| NC_000001.9:g.43167964T>C | NCBI36 |
| NG_008232.1:g.34471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.754A>G MANE Select | ENSP00000416293.2:p.Met252Val | |
| ENST00000669445.1:c.84A>G | ||
| ENST00000674765.1:c.754A>G | ENSP00000501811.1:p.Met252Val | |
| ENST00000675112.1:n.777A>G | ||
| ENST00000676254.1:n.1203A>G | ||
| ENST00000426263.7:c.754A>G | ENSP00000416293.2:p.Met252Val | |
| ENST00000439722.2:c.633A>G | ENSP00000395521.2:n.633A>G | |
| ENST00000475162.3:c.415+920A>G | ||
| ENST00000630287.2:c.*69A>G | ENSP00000486694.1:n.*69A>G | |
| NM_006516.2:c.754A>G | NP_006507.2:p.Met252Val | |
| NM_006516.3:c.754A>G | NP_006507.2:p.Met252Val | |
| NM_006516.4:c.754A>G MANE Select | NP_006507.2:p.Met252Val |