Linked Data
ClinVar Variation Id:
2969690
ClinVar RCV Id:
RCV003821824
dbSNP Id:
rs1377258176
gnomAD v2:
8-103220386-A-G
gnomAD v3:
8-102208158-A-G
gnomAD v4:
8-102208158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208158A>G , CM000670.2:g.102208158A>G | GRCh38 |
| NC_000008.10:g.103220386A>G , CM000670.1:g.103220386A>G | GRCh37 |
| NC_000008.9:g.103289562A>G | NCBI36 |
| NG_016617.1:g.35961T>C , LRG_788:g.35961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.1031T>C MANE Select | ENSP00000251810.3:p.Val344Ala | |
| ENST00000251810.7:c.1031T>C | ENSP00000251810.3:p.Val344Ala | |
| ENST00000395910.6:n.418T>C | ||
| ENST00000395912.6:c.875T>C | ENSP00000379248.2:p.Val292Ala | |
| ENST00000519317.5:c.395T>C | ENSP00000430641.1:p.Val132Ala | |
| ENST00000519962.5:c.176T>C | ENSP00000429140.1:p.Val59Ala | |
| ENST00000522368.5:c.1200T>C | ||
| ENST00000522394.1:c.364T>C | ENSP00000429578.1:n.364T>C | |
| ENST00000621845.1:c.869T>C | ENSP00000484318.1:p.Val290Ala | |
| NM_001172477.1:c.1247T>C , LRG_788t1:c.1247T>C | NP_001165948.1:p.Val416Ala | |
| NM_001172478.1:c.875T>C | NP_001165949.1:p.Val292Ala | |
| NM_015713.4:c.1031T>C , LRG_788t2:c.1031T>C | NP_056528.2:p.Val344Ala | |
| NM_001172478.2:c.875T>C | NP_001165949.1:p.Val292Ala | |
| NM_015713.5:c.1031T>C MANE Select | NP_056528.2:p.Val344Ala |