Linked Data
ClinVar Variation Id:
299463
dbSNP Id:
rs74116778
ExAC:
10:16989271 C / G
gnomAD v2:
10-16989271-C-G
gnomAD v3:
10-16947272-C-G
gnomAD v4:
10-16947272-C-G
MyVariant Identifiers:
chr10:g.16989271C>G (hg19)
chr10:g.16989271_16989274delinsGGAT (hg19)
chr10:g.16947272C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16947272C>G , CM000672.2:g.16947272C>G | GRCh38 |
| NC_000010.10:g.16989271C>G , CM000672.1:g.16989271C>G | GRCh37 |
| NC_000010.9:g.17029277C>G | NCBI36 |
| NG_008967.1:g.187546G>C , LRG_540:g.187546G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.5305G>C MANE Select | ENSP00000367064.4:p.Val1769Leu | |
| ENST00000377833.8:c.5305G>C | ENSP00000367064.4:p.Val1769Leu | |
| NM_001081.3:c.5305G>C , LRG_540t1:c.5305G>C | NP_001072.2:p.Val1769Leu | |
| XM_011519708.1:c.5305G>C | XP_011518010.1:p.Val1769Leu | |
| XM_011519709.1:c.1291G>C | XP_011518011.1:p.Val431Leu | |
| XM_011519710.1:c.1267G>C | XP_011518012.1:p.Val423Leu | |
| XM_011519711.1:c.1147G>C | XP_011518013.1:p.Val383Leu | |
| XM_011519708.2:c.5305G>C | XP_011518010.1:p.Val1769Leu | |
| XM_011519709.2:c.1291G>C | XP_011518011.1:p.Val431Leu | |
| XM_011519710.2:c.1267G>C | XP_011518012.1:p.Val423Leu | |
| XM_011519711.3:c.1147G>C | XP_011518013.1:p.Val383Leu | |
| NM_001081.4:c.5305G>C MANE Select | NP_001072.2:p.Val1769Leu |