Linked Data
ClinVar Variation Id:
137498
dbSNP Id:
rs192362302
ExAC:
5:89854669 C / T
gnomAD v2:
5-89854669-C-T
gnomAD v3:
5-90558852-C-T
gnomAD v4:
5-90558852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90558852C>T , CM000667.2:g.90558852C>T | GRCh38 |
| NC_000005.9:g.89854669C>T , CM000667.1:g.89854669C>T | GRCh37 |
| NC_000005.8:g.89890425C>T | NCBI36 |
| NG_007083.1:g.5053C>T | |
| NG_007083.2:g.34509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.-44C>T MANE Select | ENSP00000384582.2:n.-44C>T | |
| ENST00000638316.1:n.167C>T | ||
| ENST00000640109.1:n.53C>T | ||
| ENST00000640281.1:n.16C>T | ||
| ENST00000405460.6:c.-44C>T | ENSP00000384582.2:n.-44C>T | |
| ENST00000508842.5:c.34+29337C>T | ENSP00000425936.1:n.34+29337C>T | |
| NM_032119.3:c.-44C>T | NP_115495.3:n.-44C>T | |
| NR_003149.1:n.53C>T | ||
| XM_011543675.1:c.-44C>T | XP_011541977.1:n.-44C>T | |
| XM_011543676.1:c.-44C>T | XP_011541978.1:n.-44C>T | |
| XM_011543678.1:c.-44C>T | XP_011541980.1:n.-44C>T | |
| XM_011543679.1:c.-44C>T | XP_011541981.1:n.-44C>T | |
| NM_032119.4:c.-44C>T MANE Select | NP_115495.3:n.-44C>T | |
| XM_017009963.2:c.-44C>T | XP_016865452.1:n.-44C>T | |
| XM_017009964.2:c.-44C>T | XP_016865453.1:n.-44C>T | |
| XM_017009966.2:c.-44C>T | XP_016865455.1:n.-44C>T | |
| XM_017009967.1:c.-44C>T | XP_016865456.1:n.-44C>T | |
| XM_017009968.2:c.-44C>T | XP_016865457.1:n.-44C>T | |
| XM_017009969.2:c.-44C>T | XP_016865458.1:n.-44C>T | |
| XM_017009970.2:c.-44C>T | XP_016865459.1:n.-44C>T | |
| XM_017009971.2:c.-44C>T | XP_016865460.1:n.-44C>T | |
| XM_017009974.2:c.-44C>T | XP_016865463.1:n.-44C>T | |
| NR_003149.2:n.56C>T |