Linked Data
ClinVar Variation Id:
228711
dbSNP Id:
rs200130204
ExAC:
5:90086949 C / T
gnomAD v2:
5-90086949-C-T
gnomAD v3:
5-90791132-C-T
gnomAD v4:
5-90791132-C-T
COSMIC:
COSM1439110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791132C>T , CM000667.2:g.90791132C>T | GRCh38 |
| NC_000005.9:g.90086949C>T , CM000667.1:g.90086949C>T | GRCh37 |
| NC_000005.8:g.90122705C>T | NCBI36 |
| NG_007083.1:g.237333C>T | |
| NG_007083.2:g.266789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14303C>T MANE Select | ENSP00000384582.2:p.Ser4768Leu | |
| ENST00000425867.3:c.3257C>T | ENSP00000392618.3:p.Ser1086Leu | |
| ENST00000638510.1:n.1570C>T | ||
| ENST00000638585.1:n.69C>T | ||
| ENST00000638975.1:c.932C>T | ENSP00000492630.1:p.Ser311Leu | |
| ENST00000639431.1:c.265+114923C>T | ENSP00000491057.1:n.265+114923C>T | |
| ENST00000640407.1:c.713C>T | ENSP00000491425.1:p.Ser238Leu | |
| ENST00000405460.6:c.14303C>T | ENSP00000384582.2:p.Ser4768Leu | |
| ENST00000425867.2:c.1286C>T | ENSP00000392618.2:p.Ser429Leu | |
| NM_032119.3:c.14303C>T | NP_115495.3:p.Ser4768Leu | |
| NR_003149.1:n.14316C>T | ||
| XM_011543675.1:c.14300C>T | XP_011541977.1:p.Ser4767Leu | |
| XM_011543676.1:c.14222C>T | XP_011541978.1:p.Ser4741Leu | |
| XM_011543677.1:c.11606C>T | XP_011541979.1:p.Ser3869Leu | |
| XM_011543678.1:c.14303C>T | XP_011541980.1:p.Ser4768Leu | |
| NM_032119.4:c.14303C>T MANE Select | NP_115495.3:p.Ser4768Leu | |
| XM_017009963.2:c.14324C>T | XP_016865452.1:p.Ser4775Leu | |
| XM_017009964.2:c.14321C>T | XP_016865453.1:p.Ser4774Leu | |
| XM_017009965.1:c.14321C>T | XP_016865454.1:p.Ser4774Leu | |
| XM_017009966.2:c.14243C>T | XP_016865455.1:p.Ser4748Leu | |
| XM_017009967.1:c.14228C>T | XP_016865456.1:p.Ser4743Leu | |
| XM_017009968.2:c.14324C>T | XP_016865457.1:p.Ser4775Leu | |
| XM_017009969.2:c.14324C>T | XP_016865458.1:p.Ser4775Leu | |
| XM_017009970.2:c.14324C>T | XP_016865459.1:p.Ser4775Leu | |
| XM_017009971.2:c.14324C>T | XP_016865460.1:p.Ser4775Leu | |
| XM_017009972.1:c.7442C>T | XP_016865461.1:p.Ser2481Leu | |
| XM_017009973.1:c.7421C>T | XP_016865462.1:p.Ser2474Leu | |
| NR_003149.2:n.14319C>T |