Linked Data
ClinVar Variation Id:
1560568
dbSNP Id:
rs144157543
ExAC:
1:16381970 G / T
gnomAD v2:
1-16381970-G-T
gnomAD v3:
1-16055475-G-T
gnomAD v4:
1-16055475-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055475G>T , CM000663.2:g.16055475G>T | GRCh38 |
| NC_000001.10:g.16381970G>T , CM000663.1:g.16381970G>T | GRCh37 |
| NC_000001.9:g.16254557G>T | NCBI36 |
| NG_013079.1:g.16724G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1797G>T | ENSP00000507062.1:p.Leu599= | |
| ENST00000682793.1:c.1797G>T | ENSP00000506910.1:p.Leu599= | |
| ENST00000682838.1:c.*1539G>T | ENSP00000507652.1:n.*1539G>T | |
| ENST00000683578.1:c.1797G>T | ENSP00000507430.1:p.Leu599= | |
| ENST00000683606.1:n.1403G>T | ||
| ENST00000683661.1:n.3332G>T | ||
| ENST00000684324.1:c.1797G>T | ENSP00000507937.1:p.Leu599= | |
| ENST00000684545.1:c.1797G>T | ENSP00000506733.1:p.Leu599= | |
| ENST00000684624.1:n.1174G>T | ||
| ENST00000684714.1:c.*17G>T | ENSP00000506861.1:n.*17G>T | |
| ENST00000684731.1:n.1124G>T | ||
| ENST00000375679.9:c.1797G>T MANE Select | ENSP00000364831.5:p.Leu599= | |
| ENST00000375667.7:c.1290G>T | ENSP00000364819.3:p.Leu430= | |
| ENST00000375679.8:c.1797G>T | ENSP00000364831.4:p.Leu599= | |
| ENST00000431772.1:c.264G>T | ENSP00000389344.1:p.Leu88= | |
| ENST00000619181.4:c.1294-1712G>T | ENSP00000483866.1:n.1294-1712G>T | |
| NM_000085.4:c.1797G>T | NP_000076.2:p.Leu599= | |
| NM_001165945.2:c.1290G>T | NP_001159417.2:p.Leu430= | |
| XM_011540619.1:c.1638G>T | XP_011538921.1:p.Leu546= | |
| XM_011540621.1:c.1146G>T | XP_011538923.1:p.Leu382= | |
| NM_000085.5:c.1797G>T MANE Select | NP_000076.2:p.Leu599= |