Linked Data
ClinVar Variation Id:
252763
ClinVar RCV Id:
RCV000239175
dbSNP Id:
rs143168011
ExAC:
8:66992705 G / T
gnomAD v2:
8-66992705-G-T
gnomAD v3:
8-66080470-G-T
gnomAD v4:
8-66080470-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66080470G>T , CM000670.2:g.66080470G>T | GRCh38 |
| NC_000008.10:g.66992705G>T , CM000670.1:g.66992705G>T | GRCh37 |
| NC_000008.9:g.67155259G>T | NCBI36 |
| NG_053039.1:g.70488G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276570.10:c.427G>T MANE Select | ENSP00000276570.5:p.Glu143Ter | |
| ENST00000276570.9:c.427G>T | ENSP00000276570.5:p.Glu143Ter | |
| ENST00000519330.1:n.2204G>T | ||
| NM_033105.4:c.427G>T | NP_149096.2:p.Glu143Ter | |
| XM_011517618.1:c.427G>T | XP_011515920.1:p.Glu143Ter | |
| XM_011517619.1:c.424G>T | XP_011515921.1:p.Glu142Ter | |
| XM_011517620.1:c.427G>T | XP_011515922.1:p.Glu143Ter | |
| XM_011517621.1:c.337G>T | XP_011515923.1:p.Glu113Ter | |
| NM_001349432.1:c.427G>T | NP_001336361.1:p.Glu143Ter | |
| NM_033105.5:c.427G>T | NP_149096.2:p.Glu143Ter | |
| NR_146171.1:n.2273G>T | ||
| XM_011517619.2:c.424G>T | XP_011515921.1:p.Glu142Ter | |
| XM_011517620.2:c.427G>T | XP_011515922.1:p.Glu143Ter | |
| XM_011517621.2:c.337G>T | XP_011515923.1:p.Glu113Ter | |
| NM_033105.6:c.427G>T MANE Select | NP_149096.2:p.Glu143Ter | |
| NR_146171.2:n.2265G>T | ||
| NM_001349432.2:c.427G>T | NP_001336361.1:p.Glu143Ter |