Linked Data
ClinVar Variation Id:
68753
dbSNP Id:
rs281875222
gnomAD v2:
5-60200622-C-T
gnomAD v3:
5-60904795-C-T
gnomAD v4:
5-60904795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904795C>T , CM000667.2:g.60904795C>T | GRCh38 |
| NC_000005.9:g.60200622C>T , CM000667.1:g.60200622C>T | GRCh37 |
| NC_000005.8:g.60236379C>T | NCBI36 |
| NG_009289.1:g.45284G>A , LRG_466:g.45284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.478G>A | ENSP00000408344.2:p.Ala160Thr | |
| ENST00000647431.2:c.579G>A | ENSP00000494726.2:n.579G>A | |
| ENST00000647486.2:c.478G>A | ENSP00000494466.2:p.Ala160Thr | |
| ENST00000675042.2:c.304G>A | ENSP00000502082.2:p.Ala102Thr | |
| ENST00000675452.2:c.*443G>A | ENSP00000506954.1:n.*443G>A | |
| ENST00000682217.1:c.478G>A | ENSP00000507570.1:p.Ala160Thr | |
| ENST00000682246.1:n.534G>A | ||
| ENST00000682375.1:c.*308G>A | ENSP00000507551.1:n.*308G>A | |
| ENST00000683052.1:c.280G>A | ENSP00000507072.1:p.Ala94Thr | |
| ENST00000683199.1:n.500G>A | ||
| ENST00000683216.1:n.743G>A | ||
| ENST00000683460.1:c.*308G>A | ENSP00000507820.1:n.*308G>A | |
| ENST00000684394.1:n.533G>A | ||
| ENST00000684453.1:n.528G>A | ||
| ENST00000684621.1:n.534G>A | ||
| ENST00000265038.10:c.478G>A | ENSP00000265038.6:p.Ala160Thr | |
| ENST00000497892.6:c.*276G>A | ENSP00000501805.1:n.*276G>A | |
| ENST00000643034.1:c.*370G>A | ENSP00000496080.1:n.*370G>A | |
| ENST00000643708.1:c.*308G>A | ENSP00000494199.1:n.*308G>A | |
| ENST00000647431.1:c.530G>A | ||
| ENST00000647486.1:c.429G>A | ||
| ENST00000675042.1:c.304G>A | ENSP00000502082.1:p.Ala102Thr | |
| ENST00000675229.1:c.478G>A | ENSP00000502154.1:p.Ala160Thr | |
| ENST00000675378.1:c.478G>A | ENSP00000502535.1:p.Ala160Thr | |
| ENST00000675452.1:n.727G>A | ||
| ENST00000675920.1:n.1086G>A | ||
| ENST00000676185.1:c.478G>A MANE Select | ENSP00000501614.1:p.Ala160Thr | |
| ENST00000265038.9:c.478G>A | ENSP00000265038.5:p.Ala160Thr | |
| ENST00000381118.7:c.*522G>A | ENSP00000370510.3:n.*522G>A | |
| ENST00000439176.5:c.304G>A | ENSP00000408344.1:p.Ala102Thr | |
| ENST00000462279.5:n.323G>A | ||
| ENST00000484330.5:n.227-2287G>A | ||
| ENST00000495985.5:n.251G>A | ||
| ENST00000497892.5:n.521G>A | ||
| NM_000082.3:c.478G>A , LRG_466t1:c.478G>A | NP_000073.1:p.Ala160Thr | |
| NM_001007233.2:c.304G>A | NP_001007234.1:p.Ala102Thr | |
| NM_001007234.2:c.478G>A | NP_001007235.1:p.Ala160Thr | |
| NM_001290285.1:c.23-1079G>A | NP_001277214.1:n.23-1079G>A | |
| NM_001007234.3:c.478G>A | NP_001007235.1:p.Ala160Thr | |
| NM_000082.4:c.478G>A MANE Select | NP_000073.1:p.Ala160Thr | |
| NM_001007233.3:c.304G>A | NP_001007234.1:p.Ala102Thr | |
| NM_001290285.2:c.23-1079G>A | NP_001277214.1:n.23-1079G>A |