Linked Data
dbSNP Id:
rs527897232
ExAC:
22:42463183 C / T
gnomAD v2:
22-42463183-C-T
gnomAD v3:
22-42067179-C-T
gnomAD v4:
22-42067179-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42067179C>T , CM000684.2:g.42067179C>T | GRCh38 |
| NC_000022.10:g.42463183C>T , CM000684.1:g.42463183C>T | GRCh37 |
| NC_000022.9:g.40793129C>T | NCBI36 |
| NG_009247.1:g.8664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.436G>A MANE Select | ENSP00000379680.3:p.Ala146Thr | |
| ENST00000396398.7:c.436G>A | ENSP00000379680.3:p.Ala146Thr | |
| ENST00000402937.1:c.436G>A | ENSP00000384603.1:p.Ala146Thr | |
| ENST00000403363.5:c.436G>A | ENSP00000385283.1:p.Ala146Thr | |
| NM_000262.2:c.436G>A | NP_000253.1:p.Ala146Thr | |
| XM_005261615.3:c.436G>A | XP_005261672.1:p.Ala146Thr | |
| XM_005261616.3:c.436G>A | XP_005261673.1:p.Ala146Thr | |
| NM_001362848.1:c.436G>A | NP_001349777.1:p.Ala146Thr | |
| NM_001362850.1:c.436G>A | NP_001349779.1:p.Ala146Thr | |
| NM_000262.3:c.436G>A MANE Select | NP_000253.1:p.Ala146Thr |