Linked Data
ClinVar Variation Id:
220934
dbSNP Id:
rs145871479
ExAC:
8:134296524 C / T
gnomAD v2:
8-134296524-C-T
gnomAD v3:
8-133284281-C-T
gnomAD v4:
8-133284281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133284281C>T , CM000670.2:g.133284281C>T | GRCh38 |
| NC_000008.10:g.134296524C>T , CM000670.1:g.134296524C>T | GRCh37 |
| NC_000008.9:g.134365706C>T | NCBI36 |
| NG_007943.1:g.17975G>A , LRG_258:g.17975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.31G>A MANE Select | ENSP00000319977.8:p.Ala11Thr | |
| ENST00000517745.2:n.3G>A | ||
| ENST00000519580.6:c.31G>A | ENSP00000429272.1:p.Ala11Thr | |
| ENST00000537882.3:c.31G>A | ENSP00000437443.2:p.Ala11Thr | |
| ENST00000674536.1:n.49G>A | ||
| ENST00000674605.1:c.139G>A | ENSP00000501650.1:p.Ala47Thr | |
| ENST00000674804.1:c.31G>A | ENSP00000502656.1:p.Ala11Thr | |
| ENST00000674839.1:c.31G>A | ENSP00000502800.1:p.Ala11Thr | |
| ENST00000675357.1:c.31G>A | ENSP00000502209.1:p.Ala11Thr | |
| ENST00000675983.1:c.31G>A | ENSP00000501631.1:p.Ala11Thr | |
| ENST00000676005.1:c.31G>A | ENSP00000501604.1:p.Ala11Thr | |
| ENST00000676064.1:c.31G>A | ENSP00000501657.1:p.Ala11Thr | |
| ENST00000676375.1:c.31G>A | ENSP00000502695.1:p.Ala11Thr | |
| ENST00000323851.11:c.31G>A | ENSP00000319977.7:p.Ala11Thr | |
| ENST00000414097.6:c.31G>A | ENSP00000404854.2:p.Ala11Thr | |
| ENST00000517599.5:c.31G>A | ENSP00000429172.1:p.Ala11Thr | |
| ENST00000518010.5:n.168G>A | ||
| ENST00000518066.5:c.31G>A | ENSP00000431057.1:p.Ala11Thr | |
| ENST00000518176.5:c.31G>A | ENSP00000429007.1:p.Ala11Thr | |
| ENST00000518480.5:c.-135-4014G>A | ENSP00000428802.1:n.-135-4014G>A | |
| ENST00000519228.5:c.31G>A | ENSP00000429994.1:p.Ala11Thr | |
| ENST00000519580.5:c.31G>A | ENSP00000429272.1:p.Ala11Thr | |
| ENST00000520230.5:c.82G>A | ENSP00000428345.1:p.Ala28Thr | |
| ENST00000520943.5:c.64G>A | ENSP00000429840.1:p.Ala22Thr | |
| ENST00000521544.5:c.31G>A | ENSP00000429524.1:p.Ala11Thr | |
| ENST00000522377.5:c.31G>A | ENSP00000429380.1:p.Ala11Thr | |
| ENST00000522476.5:c.-100+12853G>A | ENSP00000427894.1:n.-100+12853G>A | |
| ENST00000522738.1:c.193G>A | ENSP00000428991.1:p.Ala65Thr | |
| ENST00000522890.5:c.31G>A | ENSP00000428384.1:p.Ala11Thr | |
| ENST00000523892.5:c.-263G>A | ENSP00000430171.1:n.-263G>A | |
| ENST00000537882.2:c.-107G>A | ENSP00000437443.1:n.-107G>A | |
| NM_001135242.1:c.31G>A | NP_001128714.1:p.Ala11Thr | |
| NM_001258432.1:c.-100+12853G>A | NP_001245361.1:n.-100+12853G>A | |
| NM_001258433.1:c.-107G>A | NP_001245362.1:n.-107G>A | |
| NM_006096.3:c.31G>A , LRG_258t1:c.31G>A | NP_006087.2:p.Ala11Thr | |
| XM_011516791.1:c.31G>A | XP_011515093.1:p.Ala11Thr | |
| NM_001135242.2:c.31G>A | NP_001128714.1:p.Ala11Thr | |
| NM_001258432.2:c.-100+12853G>A | NP_001245361.1:n.-100+12853G>A | |
| NM_001258433.2:c.-107G>A | NP_001245362.1:n.-107G>A | |
| NM_001374844.1:c.31G>A | NP_001361773.1:p.Ala11Thr | |
| NM_001374845.1:c.31G>A | NP_001361774.1:p.Ala11Thr | |
| NM_001374846.1:c.31G>A | NP_001361775.1:p.Ala11Thr | |
| NM_001374847.1:c.-135-4014G>A | NP_001361776.1:n.-135-4014G>A | |
| NM_006096.4:c.31G>A MANE Select | NP_006087.2:p.Ala11Thr |