Linked Data
ClinVar Variation Id:
1480761
ClinVar RCV Id:
RCV002000371
dbSNP Id:
rs1474879888
gnomAD v2:
10-73767663-C-G
gnomAD v4:
10-72007905-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007905C>G , CM000672.2:g.72007905C>G | GRCh38 |
| NC_000010.10:g.73767663C>G , CM000672.1:g.73767663C>G | GRCh37 |
| NC_000010.9:g.73437669C>G | NCBI36 |
| NG_012635.1:g.48544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.874C>G MANE Select | ENSP00000362207.4:p.Leu292Val | |
| ENST00000373115.4:c.874C>G | ENSP00000362207.4:p.Leu292Val | |
| NM_004273.4:c.874C>G | NP_004264.2:p.Leu292Val | |
| XM_006718075.2:c.874C>G | XP_006718138.1:p.Leu292Val | |
| XM_011540369.1:c.874C>G | XP_011538671.1:p.Leu292Val | |
| XM_006718075.4:c.874C>G | XP_006718138.1:p.Leu292Val | |
| XM_011540369.2:c.874C>G | XP_011538671.1:p.Leu292Val | |
| NM_004273.5:c.874C>G MANE Select | NP_004264.2:p.Leu292Val |