Linked Data
ClinVar Variation Id:
179406
dbSNP Id:
rs571603222
ExAC:
5:90074407 G / T
gnomAD v2:
5-90074407-G-T
gnomAD v3:
5-90778590-G-T
gnomAD v4:
5-90778590-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778590G>T , CM000667.2:g.90778590G>T | GRCh38 |
| NC_000005.9:g.90074407G>T , CM000667.1:g.90074407G>T | GRCh37 |
| NC_000005.8:g.90110163G>T | NCBI36 |
| NG_007083.1:g.224791G>T | |
| NG_007083.2:g.254247G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12830G>T MANE Select | ENSP00000384582.2:p.Arg4277Leu | |
| ENST00000425867.3:c.1784G>T | ENSP00000392618.3:p.Arg595Leu | |
| ENST00000639431.1:c.265+102381G>T | ENSP00000491057.1:n.265+102381G>T | |
| ENST00000640464.1:n.3249G>T | ||
| ENST00000405460.6:c.12830G>T | ENSP00000384582.2:p.Arg4277Leu | |
| NM_032119.3:c.12830G>T | NP_115495.3:p.Arg4277Leu | |
| NR_003149.1:n.12843G>T | ||
| XM_011543675.1:c.12827G>T | XP_011541977.1:p.Arg4276Leu | |
| XM_011543676.1:c.12749G>T | XP_011541978.1:p.Arg4250Leu | |
| XM_011543677.1:c.10133G>T | XP_011541979.1:p.Arg3378Leu | |
| XM_011543678.1:c.12830G>T | XP_011541980.1:p.Arg4277Leu | |
| NM_032119.4:c.12830G>T MANE Select | NP_115495.3:p.Arg4277Leu | |
| XM_017009963.2:c.12851G>T | XP_016865452.1:p.Arg4284Leu | |
| XM_017009964.2:c.12848G>T | XP_016865453.1:p.Arg4283Leu | |
| XM_017009965.1:c.12848G>T | XP_016865454.1:p.Arg4283Leu | |
| XM_017009966.2:c.12770G>T | XP_016865455.1:p.Arg4257Leu | |
| XM_017009967.1:c.12755G>T | XP_016865456.1:p.Arg4252Leu | |
| XM_017009968.2:c.12851G>T | XP_016865457.1:p.Arg4284Leu | |
| XM_017009969.2:c.12851G>T | XP_016865458.1:p.Arg4284Leu | |
| XM_017009970.2:c.12851G>T | XP_016865459.1:p.Arg4284Leu | |
| XM_017009971.2:c.12851G>T | XP_016865460.1:p.Arg4284Leu | |
| XM_017009972.1:c.5969G>T | XP_016865461.1:p.Arg1990Leu | |
| XM_017009973.1:c.5948G>T | XP_016865462.1:p.Arg1983Leu | |
| NR_003149.2:n.12846G>T |