Linked Data
ClinVar Variation Id:
422528
ClinVar RCV Id:
RCV000483543
dbSNP Id:
rs1064795838
gnomAD v4:
16-117376-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.117376C>A , CM000678.2:g.117376C>A | GRCh38 |
| NC_000016.9:g.167375C>A , CM000678.1:g.167375C>A | GRCh37 |
| NC_000016.8:g.107375C>A | NCBI36 |
| NG_029669.1:g.26323G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611875.5:c.319-1G>T MANE Select | ENSP00000478273.1:n.319-1G>T | |
| ENST00000399953.7:c.318+1750G>T | ENSP00000382834.4:n.318+1750G>T | |
| ENST00000419636.1:c.358-1G>T | ENSP00000399894.1:n.358-1G>T | |
| ENST00000422814.5:c.37-4601G>T | ENSP00000395288.1:n.37-4601G>T | |
| ENST00000456528.5:c.*194+1750G>T | ENSP00000401529.1:n.*194+1750G>T | |
| ENST00000457916.5:c.*60-1G>T | ENSP00000405942.1:n.*60-1G>T | |
| ENST00000468260.5:c.85-1G>T | ENSP00000477764.1:n.85-1G>T | |
| ENST00000473674.5:n.183-1G>T | ||
| ENST00000483663.5:c.*60-1G>T | ENSP00000418475.1:n.*60-1G>T | |
| ENST00000611875.4:c.319-1G>T | ENSP00000478273.1:n.319-1G>T | |
| ENST00000620134.4:c.319-1G>T | ENSP00000483814.1:n.319-1G>T | |
| ENST00000621703.4:c.189-4601G>T | ENSP00000477801.1:n.189-4601G>T | |
| ENST00000622194.4:c.189-1G>T | ENSP00000478045.1:n.189-1G>T | |
| NM_001039476.2:c.-144-4601G>T | NP_001034565.1:n.-144-4601G>T | |
| NM_001077350.2:c.319-1G>T | NP_001070818.1:n.319-1G>T | |
| NM_001243247.1:c.85-1G>T | NP_001230176.1:n.85-1G>T | |
| NM_001243248.1:c.318+1750G>T | NP_001230177.1:n.318+1750G>T | |
| NM_001243249.1:c.318+1750G>T | NP_001230178.1:n.318+1750G>T | |
| XM_011522668.1:c.358-1G>T | XP_011520970.1:n.358-1G>T | |
| XM_011522669.1:c.319-1G>T | XP_011520971.1:n.319-1G>T | |
| XM_011522670.1:c.319-1G>T | XP_011520972.1:n.319-1G>T | |
| XM_011522671.1:c.357+1750G>T | XP_011520973.1:n.357+1750G>T | |
| XM_011522672.1:c.318+1750G>T | XP_011520974.1:n.318+1750G>T | |
| XM_011522673.1:c.318+1750G>T | XP_011520975.1:n.318+1750G>T | |
| XM_011522674.1:c.318+1750G>T | XP_011520976.1:n.318+1750G>T | |
| XM_011522675.1:c.85-1G>T | XP_011520977.1:n.85-1G>T | |
| XM_011522676.1:c.85-1G>T | XP_011520978.1:n.85-1G>T | |
| XM_011522677.1:c.85-1G>T | XP_011520979.1:n.85-1G>T | |
| XM_011522678.1:c.-144-4601G>T | XP_011520980.1:n.-144-4601G>T | |
| XM_011522679.1:c.-144-4601G>T | XP_011520981.1:n.-144-4601G>T | |
| XM_011522680.1:c.-144-4601G>T | XP_011520982.1:n.-144-4601G>T | |
| XM_011522681.1:c.-144-4601G>T | XP_011520983.1:n.-144-4601G>T | |
| NM_001077350.3:c.319-1G>T MANE Select | NP_001070818.1:n.319-1G>T | |
| NM_001039476.3:c.-144-4601G>T | NP_001034565.1:n.-144-4601G>T | |
| NM_001243247.2:c.85-1G>T | NP_001230176.1:n.85-1G>T | |
| NM_001243248.2:c.318+1750G>T | NP_001230177.1:n.318+1750G>T | |
| NM_001243249.2:c.318+1750G>T | NP_001230178.1:n.318+1750G>T |