Linked Data
ClinVar Variation Id:
1307675
dbSNP Id:
rs28383151
ExAC:
5:82406873 G / A
gnomAD v2:
5-82406873-G-A
gnomAD v3:
5-83111054-G-A
gnomAD v4:
5-83111054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83111054G>A , CM000667.2:g.83111054G>A | GRCh38 |
| NC_000005.9:g.82406873G>A , CM000667.1:g.82406873G>A | GRCh37 |
| NC_000005.8:g.82442629G>A | NCBI36 |
| NG_047086.1:g.38646G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396027.9:c.166G>A MANE Select | ENSP00000379344.4:p.Ala56Thr | |
| ENST00000282268.7:c.166G>A | ENSP00000282268.3:p.Ala56Thr | |
| ENST00000338635.10:c.166G>A | ENSP00000342011.6:p.Ala56Thr | |
| ENST00000396027.8:c.166G>A | ENSP00000379344.4:p.Ala56Thr | |
| ENST00000509268.1:n.178G>A | ||
| ENST00000511817.1:c.166G>A | ENSP00000421491.1:p.Ala56Thr | |
| ENST00000542685.5:n.235G>A | ||
| NM_003401.3:c.166G>A | NP_003392.1:p.Ala56Thr | |
| NM_022406.2:c.166G>A | NP_071801.1:p.Ala56Thr | |
| NM_022550.2:c.166G>A | NP_072044.1:p.Ala56Thr | |
| XM_005248595.1:c.166G>A | XP_005248652.1:p.Ala56Thr | |
| XM_011543626.1:c.166G>A | XP_011541928.1:p.Ala56Thr | |
| XM_011543627.1:c.166G>A | XP_011541929.1:p.Ala56Thr | |
| XM_011543628.1:c.166G>A | XP_011541930.1:p.Ala56Thr | |
| NM_001318012.1:c.166G>A | NP_001304941.1:p.Ala56Thr | |
| NM_001318013.1:c.166G>A | NP_001304942.1:p.Ala56Thr | |
| NM_003401.4:c.166G>A | NP_003392.1:p.Ala56Thr | |
| NM_022406.3:c.166G>A | NP_071801.1:p.Ala56Thr | |
| NM_022550.3:c.166G>A | NP_072044.1:p.Ala56Thr | |
| XM_017009827.2:c.166G>A | XP_016865316.1:p.Ala56Thr | |
| XM_017009828.2:c.166G>A | XP_016865317.1:p.Ala56Thr | |
| XM_017009829.2:c.166G>A | XP_016865318.1:p.Ala56Thr | |
| NM_001318012.2:c.166G>A | NP_001304941.1:p.Ala56Thr | |
| NM_001318013.2:c.166G>A | NP_001304942.1:p.Ala56Thr | |
| NM_003401.5:c.166G>A MANE Select | NP_003392.1:p.Ala56Thr | |
| NM_022406.4:c.166G>A | NP_071801.1:p.Ala56Thr | |
| NM_001318012.3:c.166G>A | NP_001304941.1:p.Ala56Thr | |
| NM_022406.5:c.166G>A | NP_071801.1:p.Ala56Thr | |
| NM_022550.4:c.166G>A | NP_072044.1:p.Ala56Thr |