Linked Data
dbSNP Id:
rs753255281
ExAC:
5:90050873 A / T
gnomAD v2:
5-90050873-A-T
gnomAD v3:
5-90755056-A-T
gnomAD v4:
5-90755056-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90755056A>T , CM000667.2:g.90755056A>T | GRCh38 |
| NC_000005.9:g.90050873A>T , CM000667.1:g.90050873A>T | GRCh37 |
| NC_000005.8:g.90086629A>T | NCBI36 |
| NG_007083.1:g.201257A>T | |
| NG_007083.2:g.230713A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11451A>T MANE Select | ENSP00000384582.2:p.Arg3817Ser | |
| ENST00000425867.3:c.582A>T | ENSP00000392618.3:p.Arg194Ser | |
| ENST00000639431.1:c.265+78847A>T | ENSP00000491057.1:n.265+78847A>T | |
| ENST00000640374.1:n.4595A>T | ||
| ENST00000640464.1:n.1870A>T | ||
| ENST00000405460.6:c.11451A>T | ENSP00000384582.2:p.Arg3817Ser | |
| ENST00000509621.1:c.4148A>T | ||
| NM_032119.3:c.11451A>T | NP_115495.3:p.Arg3817Ser | |
| NR_003149.1:n.11464A>T | ||
| XM_011543675.1:c.11448A>T | XP_011541977.1:p.Arg3816Ser | |
| XM_011543676.1:c.11370A>T | XP_011541978.1:p.Arg3790Ser | |
| XM_011543677.1:c.8754A>T | XP_011541979.1:p.Arg2918Ser | |
| XM_011543678.1:c.11451A>T | XP_011541980.1:p.Arg3817Ser | |
| NM_032119.4:c.11451A>T MANE Select | NP_115495.3:p.Arg3817Ser | |
| XM_017009963.2:c.11472A>T | XP_016865452.1:p.Arg3824Ser | |
| XM_017009964.2:c.11469A>T | XP_016865453.1:p.Arg3823Ser | |
| XM_017009965.1:c.11469A>T | XP_016865454.1:p.Arg3823Ser | |
| XM_017009966.2:c.11391A>T | XP_016865455.1:p.Arg3797Ser | |
| XM_017009967.1:c.11376A>T | XP_016865456.1:p.Arg3792Ser | |
| XM_017009968.2:c.11472A>T | XP_016865457.1:p.Arg3824Ser | |
| XM_017009969.2:c.11472A>T | XP_016865458.1:p.Arg3824Ser | |
| XM_017009970.2:c.11472A>T | XP_016865459.1:p.Arg3824Ser | |
| XM_017009971.2:c.11472A>T | XP_016865460.1:p.Arg3824Ser | |
| XM_017009972.1:c.4590A>T | XP_016865461.1:p.Arg1530Ser | |
| XM_017009973.1:c.4569A>T | XP_016865462.1:p.Arg1523Ser | |
| NR_003149.2:n.11467A>T |