Linked Data
ClinVar Variation Id:
299376
dbSNP Id:
rs559567467
gnomAD v3:
10-16851280-C-T
gnomAD v4:
10-16851280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16851280C>T , CM000672.2:g.16851280C>T | GRCh38 |
| NC_000010.10:g.16893279C>T , CM000672.1:g.16893279C>T | GRCh37 |
| NC_000010.9:g.16933285C>T | NCBI36 |
| NG_008967.1:g.283538G>A , LRG_540:g.283538G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.9618G>A MANE Select | ENSP00000367064.4:p.Leu3206= | |
| ENST00000649135.1:n.213G>A | ||
| ENST00000377833.8:c.9618G>A | ENSP00000367064.4:p.Leu3206= | |
| NM_001081.3:c.9618G>A , LRG_540t1:c.9618G>A | NP_001072.2:p.Leu3206= | |
| XM_011519709.1:c.5604G>A | XP_011518011.1:p.Leu1868= | |
| XM_011519710.1:c.5580G>A | XP_011518012.1:p.Leu1860= | |
| XM_011519711.1:c.5460G>A | XP_011518013.1:p.Leu1820= | |
| XM_011519709.2:c.5604G>A | XP_011518011.1:p.Leu1868= | |
| XM_011519710.2:c.5580G>A | XP_011518012.1:p.Leu1860= | |
| XM_011519711.3:c.5460G>A | XP_011518013.1:p.Leu1820= | |
| NM_001081.4:c.9618G>A MANE Select | NP_001072.2:p.Leu3206= |