Linked Data
ClinVar Variation Id:
281460
dbSNP Id:
rs141681122
ExAC:
5:90000214 G / T
gnomAD v2:
5-90000214-G-T
gnomAD v3:
5-90704397-G-T
gnomAD v4:
5-90704397-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90704397G>T , CM000667.2:g.90704397G>T | GRCh38 |
| NC_000005.9:g.90000214G>T , CM000667.1:g.90000214G>T | GRCh37 |
| NC_000005.8:g.90035970G>T | NCBI36 |
| NG_007083.1:g.150598G>T | |
| NG_007083.2:g.180054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8295G>T MANE Select | ENSP00000384582.2:p.Leu2765Phe | |
| ENST00000639431.1:c.265+28188G>T | ENSP00000491057.1:n.265+28188G>T | |
| ENST00000639473.1:n.3754G>T | ||
| ENST00000640012.1:c.2102G>T | ||
| ENST00000640374.1:n.1439G>T | ||
| ENST00000640403.1:c.5586G>T | ENSP00000492531.1:p.Leu1862Phe | |
| ENST00000640779.1:c.3024G>T | ||
| ENST00000405460.6:c.8295G>T | ENSP00000384582.2:p.Leu2765Phe | |
| ENST00000509621.1:c.992G>T | ||
| NM_032119.3:c.8295G>T | NP_115495.3:p.Leu2765Phe | |
| NR_003149.1:n.8308G>T | ||
| XM_011543675.1:c.8292G>T | XP_011541977.1:p.Leu2764Phe | |
| XM_011543676.1:c.8214G>T | XP_011541978.1:p.Leu2738Phe | |
| XM_011543677.1:c.5598G>T | XP_011541979.1:p.Leu1866Phe | |
| XM_011543678.1:c.8295G>T | XP_011541980.1:p.Leu2765Phe | |
| XM_011543679.1:c.8295G>T | XP_011541981.1:p.Leu2765Phe | |
| NM_032119.4:c.8295G>T MANE Select | NP_115495.3:p.Leu2765Phe | |
| XM_017009963.2:c.8295G>T | XP_016865452.1:p.Leu2765Phe | |
| XM_017009964.2:c.8292G>T | XP_016865453.1:p.Leu2764Phe | |
| XM_017009965.1:c.8292G>T | XP_016865454.1:p.Leu2764Phe | |
| XM_017009966.2:c.8214G>T | XP_016865455.1:p.Leu2738Phe | |
| XM_017009967.1:c.8199G>T | XP_016865456.1:p.Leu2733Phe | |
| XM_017009968.2:c.8295G>T | XP_016865457.1:p.Leu2765Phe | |
| XM_017009969.2:c.8295G>T | XP_016865458.1:p.Leu2765Phe | |
| XM_017009970.2:c.8295G>T | XP_016865459.1:p.Leu2765Phe | |
| XM_017009971.2:c.8295G>T | XP_016865460.1:p.Leu2765Phe | |
| XM_017009972.1:c.1413G>T | XP_016865461.1:p.Leu471Phe | |
| XM_017009973.1:c.1413G>T | XP_016865462.1:p.Leu471Phe | |
| XM_017009974.2:c.8295G>T | XP_016865463.1:p.Leu2765Phe | |
| NR_003149.2:n.8311G>T |