Linked Data
ClinVar Variation Id:
402547
ClinVar RCV Id:
RCV000454864
dbSNP Id:
rs200649005
gnomAD v4:
5-1344394-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1344394C>G , CM000667.2:g.1344394C>G | GRCh38 |
| NC_000005.9:g.1344509C>G , CM000667.1:g.1344509C>G | GRCh37 |
| NC_000005.8:g.1397509C>G | NCBI36 |
| NG_046903.1:g.5672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320895.10:c.220G>C MANE Select | ENSP00000313854.5:p.Val74Leu | |
| ENST00000320895.9:c.220G>C | ENSP00000313854.5:p.Val74Leu | |
| ENST00000630539.1:c.-180G>C | ENSP00000485923.1:n.-180G>C | |
| NM_030782.3:c.220G>C | NP_110409.2:p.Val74Leu | |
| NM_030782.4:c.220G>C | NP_110409.2:p.Val74Leu | |
| XM_011514144.1:c.220G>C | XP_011512446.1:p.Val74Leu | |
| XM_011514144.2:c.220G>C | XP_011512446.1:p.Val74Leu | |
| XM_024446221.1:c.220G>C | XP_024301989.1:p.Val74Leu | |
| XR_002956182.1:n.263G>C | ||
| XR_002956183.1:n.444G>C | ||
| NM_030782.5:c.220G>C MANE Select | NP_110409.2:p.Val74Leu |