Linked Data
ClinVar Variation Id:
517415
dbSNP Id:
rs769215629
ExAC:
5:90020777 C / T
gnomAD v2:
5-90020777-C-T
gnomAD v4:
5-90724960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90724960C>T , CM000667.2:g.90724960C>T | GRCh38 |
| NC_000005.9:g.90020777C>T , CM000667.1:g.90020777C>T | GRCh37 |
| NC_000005.8:g.90056533C>T | NCBI36 |
| NG_007083.1:g.171161C>T | |
| NG_007083.2:g.200617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9877C>T MANE Select | ENSP00000384582.2:p.Arg3293Ter | |
| ENST00000639431.1:c.265+48751C>T | ENSP00000491057.1:n.265+48751C>T | |
| ENST00000640374.1:n.3021C>T | ||
| ENST00000640464.1:n.296C>T | ||
| ENST00000640779.1:c.4606C>T | ||
| ENST00000405460.6:c.9877C>T | ENSP00000384582.2:p.Arg3293Ter | |
| ENST00000509621.1:c.2574C>T | ||
| NM_032119.3:c.9877C>T | NP_115495.3:p.Arg3293Ter | |
| NR_003149.1:n.9890C>T | ||
| XM_011543675.1:c.9874C>T | XP_011541977.1:p.Arg3292Ter | |
| XM_011543676.1:c.9796C>T | XP_011541978.1:p.Arg3266Ter | |
| XM_011543677.1:c.7180C>T | XP_011541979.1:p.Arg2394Ter | |
| XM_011543678.1:c.9877C>T | XP_011541980.1:p.Arg3293Ter | |
| XM_011543679.1:c.9877C>T | XP_011541981.1:p.Arg3293Ter | |
| XR_948560.1:n.272-9151G>A | ||
| NM_032119.4:c.9877C>T MANE Select | NP_115495.3:p.Arg3293Ter | |
| XM_017009963.2:c.9898C>T | XP_016865452.1:p.Arg3300Ter | |
| XM_017009964.2:c.9895C>T | XP_016865453.1:p.Arg3299Ter | |
| XM_017009965.1:c.9895C>T | XP_016865454.1:p.Arg3299Ter | |
| XM_017009966.2:c.9817C>T | XP_016865455.1:p.Arg3273Ter | |
| XM_017009967.1:c.9802C>T | XP_016865456.1:p.Arg3268Ter | |
| XM_017009968.2:c.9898C>T | XP_016865457.1:p.Arg3300Ter | |
| XM_017009969.2:c.9898C>T | XP_016865458.1:p.Arg3300Ter | |
| XM_017009970.2:c.9898C>T | XP_016865459.1:p.Arg3300Ter | |
| XM_017009971.2:c.9898C>T | XP_016865460.1:p.Arg3300Ter | |
| XM_017009972.1:c.3016C>T | XP_016865461.1:p.Arg1006Ter | |
| XM_017009973.1:c.2995C>T | XP_016865462.1:p.Arg999Ter | |
| XM_017009974.2:c.9898C>T | XP_016865463.1:p.Arg3300Ter | |
| XR_001742802.1:n.2523-9151G>A | ||
| NR_003149.2:n.9893C>T |