Linked Data
ClinVar Variation Id:
282743
dbSNP Id:
rs185971062
ExAC:
5:89971213 C / T
gnomAD v2:
5-89971213-C-T
gnomAD v3:
5-90675396-C-T
gnomAD v4:
5-90675396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90675396C>T , CM000667.2:g.90675396C>T | GRCh38 |
| NC_000005.9:g.89971213C>T , CM000667.1:g.89971213C>T | GRCh37 |
| NC_000005.8:g.90006969C>T | NCBI36 |
| NG_007083.1:g.121597C>T | |
| NG_007083.2:g.151053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.5264C>T MANE Select | ENSP00000384582.2:p.Ala1755Val | |
| ENST00000639431.1:c.86C>T | ENSP00000491057.1:p.Ala29Val | |
| ENST00000639473.1:n.723C>T | ||
| ENST00000640403.1:c.2555C>T | ENSP00000492531.1:p.Ala852Val | |
| ENST00000640779.1:c.79C>T | ||
| ENST00000405460.6:c.5264C>T | ENSP00000384582.2:p.Ala1755Val | |
| ENST00000450321.2:n.599C>T | ||
| NM_032119.3:c.5264C>T | NP_115495.3:p.Ala1755Val | |
| NR_003149.1:n.5360C>T | ||
| XM_011543675.1:c.5264C>T | XP_011541977.1:p.Ala1755Val | |
| XM_011543676.1:c.5264C>T | XP_011541978.1:p.Ala1755Val | |
| XM_011543677.1:c.2567C>T | XP_011541979.1:p.Ala856Val | |
| XM_011543678.1:c.5264C>T | XP_011541980.1:p.Ala1755Val | |
| XM_011543679.1:c.5264C>T | XP_011541981.1:p.Ala1755Val | |
| NM_032119.4:c.5264C>T MANE Select | NP_115495.3:p.Ala1755Val | |
| XM_017009963.2:c.5264C>T | XP_016865452.1:p.Ala1755Val | |
| XM_017009964.2:c.5264C>T | XP_016865453.1:p.Ala1755Val | |
| XM_017009965.1:c.5261C>T | XP_016865454.1:p.Ala1754Val | |
| XM_017009966.2:c.5264C>T | XP_016865455.1:p.Ala1755Val | |
| XM_017009967.1:c.5168C>T | XP_016865456.1:p.Ala1723Val | |
| XM_017009968.2:c.5264C>T | XP_016865457.1:p.Ala1755Val | |
| XM_017009969.2:c.5264C>T | XP_016865458.1:p.Ala1755Val | |
| XM_017009970.2:c.5264C>T | XP_016865459.1:p.Ala1755Val | |
| XM_017009971.2:c.5264C>T | XP_016865460.1:p.Ala1755Val | |
| XM_017009973.1:c.-1533C>T | XP_016865462.1:n.-1533C>T | |
| XM_017009974.2:c.5264C>T | XP_016865463.1:p.Ala1755Val | |
| NR_003149.2:n.5363C>T |