Linked Data
ClinVar Variation Id:
284979
dbSNP Id:
rs754991269
ExAC:
7:75933171 G / A
gnomAD v2:
7-75933171-G-A
gnomAD v3:
7-76303854-G-A
gnomAD v4:
7-76303854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303854G>A , CM000669.2:g.76303854G>A | GRCh38 |
| NC_000007.13:g.75933171G>A , CM000669.1:g.75933171G>A | GRCh37 |
| NC_000007.12:g.75771107G>A | NCBI36 |
| NG_008995.1:g.6297G>A , LRG_248:g.6297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.417G>A MANE Select | ENSP00000248553.6:p.Thr139= | |
| ENST00000674547.1:c.417G>A | ENSP00000502461.1:p.Thr139= | |
| ENST00000674638.1:c.412G>A | ENSP00000502651.1:p.Ala138Thr | |
| ENST00000674650.1:c.365-130G>A | ENSP00000501628.1:n.365-130G>A | |
| ENST00000674965.1:c.*73G>A | ENSP00000501765.1:n.*73G>A | |
| ENST00000675134.1:c.407+10G>A | ENSP00000501831.1:n.407+10G>A | |
| ENST00000675226.1:c.416G>A | ENSP00000502510.1:p.Arg139His | |
| ENST00000675417.1:n.650G>A | ||
| ENST00000675538.1:c.452G>A | ENSP00000502495.1:p.Arg151His | |
| ENST00000675906.1:c.417G>A | ENSP00000502714.1:p.Thr139= | |
| ENST00000676195.1:n.133G>A | ||
| ENST00000676231.1:c.447G>A | ENSP00000502249.1:p.Thr149= | |
| ENST00000248553.6:c.417G>A | ENSP00000248553.6:p.Thr139= | |
| ENST00000429938.1:c.-88G>A | ENSP00000405285.1:n.-88G>A | |
| ENST00000447574.1:c.*581G>A | ENSP00000414357.1:n.*581G>A | |
| NM_001540.3:c.417G>A , LRG_248t1:c.417G>A | NP_001531.1:p.Thr139= | |
| NM_001540.4:c.417G>A | NP_001531.1:p.Thr139= | |
| NM_001540.5:c.417G>A MANE Select | NP_001531.1:p.Thr139= |