Linked Data
ClinVar Variation Id:
44160
dbSNP Id:
rs4074536
ExAC:
1:116310967 T / C
gnomAD v2:
1-116310967-T-C
gnomAD v3:
1-115768346-T-C
gnomAD v4:
1-115768346-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768346T>C , CM000663.2:g.115768346T>C | GRCh38 |
| NC_000001.10:g.116310967T>C , CM000663.1:g.116310967T>C | GRCh37 |
| NC_000001.9:g.116112490T>C | NCBI36 |
| NG_008802.1:g.5460A>G , LRG_404:g.5460A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.-81A>G | ENSP00000518226.1:n.-81A>G | |
| ENST00000261448.6:c.196A>G MANE Select | ENSP00000261448.5:p.Thr66Ala | |
| ENST00000261448.5:c.196A>G | ENSP00000261448.5:p.Thr66Ala | |
| NM_001232.3:c.196A>G , LRG_404t1:c.196A>G | NP_001223.2:p.Thr66Ala | |
| NM_001232.4:c.196A>G MANE Select | NP_001223.2:p.Thr66Ala |