Linked Data
ClinVar Variation Id:
3016735
ClinVar RCV Id:
RCV003878870
dbSNP Id:
rs1901210325
gnomAD v4:
16-138199-C-G
MyVariant Identifiers:
chr16:g.188198C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.138199C>G , CM000678.2:g.138199C>G | GRCh38 |
| NC_000016.9:g.188198C>G , CM000678.1:g.188198C>G | GRCh37 |
| NC_000016.8:g.128198C>G | NCBI36 |
| NG_029669.1:g.5500G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611875.5:c.69G>C MANE Select | ENSP00000478273.1:p.Leu23= | |
| ENST00000399953.7:c.69G>C | ENSP00000382834.4:p.Leu23= | |
| ENST00000419636.1:c.69G>C | ENSP00000399894.1:p.Leu23= | |
| ENST00000422814.5:c.36+33G>C | ENSP00000395288.1:n.36+33G>C | |
| ENST00000456528.5:c.69G>C | ENSP00000401529.1:p.Leu23= | |
| ENST00000457916.5:c.36+33G>C | ENSP00000405942.1:n.36+33G>C | |
| ENST00000468260.5:c.-293+443G>C | ENSP00000477764.1:n.-293+443G>C | |
| ENST00000483663.5:c.69G>C | ENSP00000418475.1:p.Leu23= | |
| ENST00000611875.4:c.69G>C | ENSP00000478273.1:p.Leu23= | |
| ENST00000620134.4:c.69G>C | ENSP00000483814.1:p.Leu23= | |
| ENST00000621703.4:c.69G>C | ENSP00000477801.1:p.Leu23= | |
| ENST00000622194.4:c.69G>C | ENSP00000478045.1:p.Leu23= | |
| NM_001039476.2:c.-264G>C | NP_001034565.1:n.-264G>C | |
| NM_001077350.2:c.69G>C | NP_001070818.1:p.Leu23= | |
| NM_001243247.1:c.-303G>C | NP_001230176.1:n.-303G>C | |
| NM_001243248.1:c.69G>C | NP_001230177.1:p.Leu23= | |
| NM_001243249.1:c.69G>C | NP_001230178.1:p.Leu23= | |
| XM_011522668.1:c.69G>C | XP_011520970.1:p.Leu23= | |
| XM_011522669.1:c.69G>C | XP_011520971.1:p.Leu23= | |
| XM_011522670.1:c.69G>C | XP_011520972.1:p.Leu23= | |
| XM_011522671.1:c.69G>C | XP_011520973.1:p.Leu23= | |
| XM_011522672.1:c.69G>C | XP_011520974.1:p.Leu23= | |
| XM_011522673.1:c.69G>C | XP_011520975.1:p.Leu23= | |
| XM_011522674.1:c.69G>C | XP_011520976.1:p.Leu23= | |
| XM_011522675.1:c.-303G>C | XP_011520977.1:n.-303G>C | |
| XM_011522677.1:c.-96G>C | XP_011520979.1:n.-96G>C | |
| XM_011522678.1:c.-264G>C | XP_011520980.1:n.-264G>C | |
| XM_011522679.1:c.-194G>C | XP_011520981.1:n.-194G>C | |
| XM_011522680.1:c.-194G>C | XP_011520982.1:n.-194G>C | |
| XM_011522681.1:c.-194G>C | XP_011520983.1:n.-194G>C | |
| NM_001077350.3:c.69G>C MANE Select | NP_001070818.1:p.Leu23= | |
| NM_001039476.3:c.-264G>C | NP_001034565.1:n.-264G>C | |
| NM_001243247.2:c.-303G>C | NP_001230176.1:n.-303G>C | |
| NM_001243248.2:c.69G>C | NP_001230177.1:p.Leu23= | |
| NM_001243249.2:c.69G>C | NP_001230178.1:p.Leu23= |