Linked Data
ClinVar Variation Id:
222964
ClinVar RCV Id:
RCV000208542
dbSNP Id:
rs548549593
ExAC:
3:183273174 G / C
gnomAD v2:
3-183273174-G-C
gnomAD v3:
3-183555386-G-C
gnomAD v4:
3-183555386-G-C
COSMIC:
COSM4171225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183555386G>C , CM000665.2:g.183555386G>C | GRCh38 |
| NC_000003.11:g.183273174G>C , CM000665.1:g.183273174G>C | GRCh37 |
| NC_000003.10:g.184755868G>C | NCBI36 |
| NG_053012.1:g.5327C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341319.8:c.268C>G MANE Select | ENSP00000341342.3:p.Leu90Val | |
| ENST00000341319.7:c.268C>G | ENSP00000341342.3:p.Leu90Val | |
| ENST00000468734.1:c.235C>G | ENSP00000433734.1:p.Leu79Val | |
| ENST00000489245.5:n.280C>G | ||
| NM_130446.2:c.268C>G | NP_569713.2:p.Leu90Val | |
| XM_011513274.1:c.268C>G | XP_011511576.1:p.Leu90Val | |
| XR_924209.1:n.327C>G | ||
| NM_130446.3:c.268C>G | NP_569713.2:p.Leu90Val | |
| XM_011513274.3:c.268C>G | XP_011511576.1:p.Leu90Val | |
| XR_924209.3:n.326C>G | ||
| NM_130446.4:c.268C>G MANE Select | NP_569713.2:p.Leu90Val |