Linked Data
ClinVar Variation Id:
197789
ClinVar RCV Id:
RCV000178920
dbSNP Id:
rs794727721
gnomAD v2:
1-43395656-C-G
gnomAD v3:
1-42929985-C-G
gnomAD v4:
1-42929985-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929985C>G , CM000663.2:g.42929985C>G | GRCh38 |
| NC_000001.10:g.43395656C>G , CM000663.1:g.43395656C>G | GRCh37 |
| NC_000001.9:g.43168243C>G | NCBI36 |
| NG_008232.1:g.34192G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.567G>C MANE Select | ENSP00000416293.2:p.Leu189= | |
| ENST00000674765.1:c.567G>C | ENSP00000501811.1:p.Leu189= | |
| ENST00000675112.1:n.590G>C | ||
| ENST00000676254.1:n.1016G>C | ||
| ENST00000426263.7:c.567G>C | ENSP00000416293.2:p.Leu189= | |
| ENST00000439722.2:c.446G>C | ENSP00000395521.2:n.446G>C | |
| ENST00000475162.3:c.415+641G>C | ||
| ENST00000630287.2:c.517-205G>C | ENSP00000486694.1:n.517-205G>C | |
| NM_006516.2:c.567G>C | NP_006507.2:p.Leu189= | |
| NM_006516.3:c.567G>C | NP_006507.2:p.Leu189= | |
| NM_006516.4:c.567G>C MANE Select | NP_006507.2:p.Leu189= |