Linked Data
ClinVar Variation Id:
158655
dbSNP Id:
rs114137750
ExAC:
5:90016778 C / T
gnomAD v2:
5-90016778-C-T
gnomAD v3:
5-90720961-C-T
gnomAD v4:
5-90720961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90720961C>T , CM000667.2:g.90720961C>T | GRCh38 |
| NC_000005.9:g.90016778C>T , CM000667.1:g.90016778C>T | GRCh37 |
| NC_000005.8:g.90052534C>T | NCBI36 |
| NG_007083.1:g.167162C>T | |
| NG_007083.2:g.196618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9650C>T MANE Select | ENSP00000384582.2:p.Ala3217Val | |
| ENST00000639431.1:c.265+44752C>T | ENSP00000491057.1:n.265+44752C>T | |
| ENST00000640374.1:n.2794C>T | ||
| ENST00000640464.1:n.69C>T | ||
| ENST00000640779.1:c.4379C>T | ||
| ENST00000405460.6:c.9650C>T | ENSP00000384582.2:p.Ala3217Val | |
| ENST00000509621.1:c.2347C>T | ||
| NM_032119.3:c.9650C>T | NP_115495.3:p.Ala3217Val | |
| NR_003149.1:n.9663C>T | ||
| XM_011543675.1:c.9647C>T | XP_011541977.1:p.Ala3216Val | |
| XM_011543676.1:c.9569C>T | XP_011541978.1:p.Ala3190Val | |
| XM_011543677.1:c.6953C>T | XP_011541979.1:p.Ala2318Val | |
| XM_011543678.1:c.9650C>T | XP_011541980.1:p.Ala3217Val | |
| XM_011543679.1:c.9650C>T | XP_011541981.1:p.Ala3217Val | |
| XR_948560.1:n.272-5152G>A | ||
| NM_032119.4:c.9650C>T MANE Select | NP_115495.3:p.Ala3217Val | |
| XM_017009963.2:c.9671C>T | XP_016865452.1:p.Ala3224Val | |
| XM_017009964.2:c.9668C>T | XP_016865453.1:p.Ala3223Val | |
| XM_017009965.1:c.9668C>T | XP_016865454.1:p.Ala3223Val | |
| XM_017009966.2:c.9590C>T | XP_016865455.1:p.Ala3197Val | |
| XM_017009967.1:c.9575C>T | XP_016865456.1:p.Ala3192Val | |
| XM_017009968.2:c.9671C>T | XP_016865457.1:p.Ala3224Val | |
| XM_017009969.2:c.9671C>T | XP_016865458.1:p.Ala3224Val | |
| XM_017009970.2:c.9671C>T | XP_016865459.1:p.Ala3224Val | |
| XM_017009971.2:c.9671C>T | XP_016865460.1:p.Ala3224Val | |
| XM_017009972.1:c.2789C>T | XP_016865461.1:p.Ala930Val | |
| XM_017009973.1:c.2768C>T | XP_016865462.1:p.Ala923Val | |
| XM_017009974.2:c.9671C>T | XP_016865463.1:p.Ala3224Val | |
| XR_001742802.1:n.2523-5152G>A | ||
| NR_003149.2:n.9666C>T |