Linked Data
ClinVar Variation Id:
430362
dbSNP Id:
rs1131691924
gnomAD v2:
5-90087011-C-T
gnomAD v3:
5-90791194-C-T
gnomAD v4:
5-90791194-C-T
COSMIC:
COSM4852148
PubMed:
PMID:22147658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791194C>T , CM000667.2:g.90791194C>T | GRCh38 |
| NC_000005.9:g.90087011C>T , CM000667.1:g.90087011C>T | GRCh37 |
| NC_000005.8:g.90122767C>T | NCBI36 |
| NG_007083.1:g.237395C>T | |
| NG_007083.2:g.266851C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.14365C>T MANE Select | ENSP00000384582.2:p.Arg4789Trp | |
| ENST00000425867.3:c.3319C>T | ENSP00000392618.3:p.Arg1107Trp | |
| ENST00000507314.2:c.40C>T | ENSP00000491299.1:p.Arg14Trp | |
| ENST00000638510.1:n.1632C>T | ||
| ENST00000638585.1:n.131C>T | ||
| ENST00000638975.1:c.994C>T | ENSP00000492630.1:p.Arg332Trp | |
| ENST00000639431.1:c.265+114985C>T | ENSP00000491057.1:n.265+114985C>T | |
| ENST00000640407.1:c.775C>T | ENSP00000491425.1:p.Arg259Trp | |
| ENST00000405460.6:c.14365C>T | ENSP00000384582.2:p.Arg4789Trp | |
| ENST00000425867.2:c.1348C>T | ENSP00000392618.2:p.Arg450Trp | |
| ENST00000507314.1:n.40C>T | ||
| NM_032119.3:c.14365C>T | NP_115495.3:p.Arg4789Trp | |
| NR_003149.1:n.14378C>T | ||
| XM_011543675.1:c.14362C>T | XP_011541977.1:p.Arg4788Trp | |
| XM_011543676.1:c.14284C>T | XP_011541978.1:p.Arg4762Trp | |
| XM_011543677.1:c.11668C>T | XP_011541979.1:p.Arg3890Trp | |
| XM_011543678.1:c.14365C>T | XP_011541980.1:p.Arg4789Trp | |
| NM_032119.4:c.14365C>T MANE Select | NP_115495.3:p.Arg4789Trp | |
| XM_017009963.2:c.14386C>T | XP_016865452.1:p.Arg4796Trp | |
| XM_017009964.2:c.14383C>T | XP_016865453.1:p.Arg4795Trp | |
| XM_017009965.1:c.14383C>T | XP_016865454.1:p.Arg4795Trp | |
| XM_017009966.2:c.14305C>T | XP_016865455.1:p.Arg4769Trp | |
| XM_017009967.1:c.14290C>T | XP_016865456.1:p.Arg4764Trp | |
| XM_017009968.2:c.14386C>T | XP_016865457.1:p.Arg4796Trp | |
| XM_017009969.2:c.14386C>T | XP_016865458.1:p.Arg4796Trp | |
| XM_017009970.2:c.14386C>T | XP_016865459.1:p.Arg4796Trp | |
| XM_017009971.2:c.14386C>T | XP_016865460.1:p.Arg4796Trp | |
| XM_017009972.1:c.7504C>T | XP_016865461.1:p.Arg2502Trp | |
| XM_017009973.1:c.7483C>T | XP_016865462.1:p.Arg2495Trp | |
| NR_003149.2:n.14381C>T |