Linked Data
dbSNP Id:
rs751832113
ExAC:
5:90106817 G / T
gnomAD v2:
5-90106817-G-T
gnomAD v3:
5-90811000-G-T
gnomAD v4:
5-90811000-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90811000G>T , CM000667.2:g.90811000G>T | GRCh38 |
| NC_000005.9:g.90106817G>T , CM000667.1:g.90106817G>T | GRCh37 |
| NC_000005.8:g.90142573G>T | NCBI36 |
| NG_007083.1:g.257201G>T | |
| NG_007083.2:g.286657G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15740G>T MANE Select | ENSP00000384582.2:p.Arg5247Ile | |
| ENST00000425867.3:c.4694G>T | ENSP00000392618.3:p.Arg1565Ile | |
| ENST00000638510.1:n.3007G>T | ||
| ENST00000639431.1:c.265+134791G>T | ENSP00000491057.1:n.265+134791G>T | |
| ENST00000640407.1:c.2150G>T | ENSP00000491425.1:p.Arg717Ile | |
| ENST00000405460.6:c.15740G>T | ENSP00000384582.2:p.Arg5247Ile | |
| ENST00000425867.2:c.2723G>T | ENSP00000392618.2:p.Arg908Ile | |
| NM_032119.3:c.15740G>T | NP_115495.3:p.Arg5247Ile | |
| NR_003149.1:n.15753G>T | ||
| XM_011543675.1:c.15737G>T | XP_011541977.1:p.Arg5246Ile | |
| XM_011543676.1:c.15659G>T | XP_011541978.1:p.Arg5220Ile | |
| XM_011543677.1:c.13043G>T | XP_011541979.1:p.Arg4348Ile | |
| NM_032119.4:c.15740G>T MANE Select | NP_115495.3:p.Arg5247Ile | |
| XM_017009963.2:c.15761G>T | XP_016865452.1:p.Arg5254Ile | |
| XM_017009964.2:c.15758G>T | XP_016865453.1:p.Arg5253Ile | |
| XM_017009965.1:c.15758G>T | XP_016865454.1:p.Arg5253Ile | |
| XM_017009966.2:c.15680G>T | XP_016865455.1:p.Arg5227Ile | |
| XM_017009967.1:c.15665G>T | XP_016865456.1:p.Arg5222Ile | |
| XM_017009968.2:c.15581G>T | XP_016865457.1:p.Arg5194Ile | |
| XM_017009969.2:c.15761G>T | XP_016865458.1:p.Arg5254Ile | |
| XM_017009972.1:c.8879G>T | XP_016865461.1:p.Arg2960Ile | |
| XM_017009973.1:c.8858G>T | XP_016865462.1:p.Arg2953Ile | |
| NR_003149.2:n.15756G>T |