Linked Data
ClinVar Variation Id:
962163
ClinVar RCV Id:
RCV001235971
dbSNP Id:
rs1276548832
gnomAD v3:
7-76303862-A-G
gnomAD v4:
7-76303862-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303862A>G , CM000669.2:g.76303862A>G | GRCh38 |
| NC_000007.13:g.75933179A>G , CM000669.1:g.75933179A>G | GRCh37 |
| NC_000007.12:g.75771115A>G | NCBI36 |
| NG_008995.1:g.6305A>G , LRG_248:g.6305A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.425A>G MANE Select | ENSP00000248553.6:p.Tyr142Cys | |
| ENST00000674547.1:c.425A>G | ENSP00000502461.1:p.Tyr142Cys | |
| ENST00000674638.1:c.420A>G | ENSP00000502651.1:p.Ile140Met | |
| ENST00000674650.1:c.365-122A>G | ENSP00000501628.1:n.365-122A>G | |
| ENST00000674965.1:c.*81A>G | ENSP00000501765.1:n.*81A>G | |
| ENST00000675134.1:c.407+18A>G | ENSP00000501831.1:n.407+18A>G | |
| ENST00000675226.1:c.424A>G | ENSP00000502510.1:p.Thr142Ala | |
| ENST00000675417.1:n.658A>G | ||
| ENST00000675538.1:c.460A>G | ENSP00000502495.1:p.Thr154Ala | |
| ENST00000675906.1:c.425A>G | ENSP00000502714.1:p.Tyr142Cys | |
| ENST00000676195.1:n.141A>G | ||
| ENST00000676231.1:c.455A>G | ENSP00000502249.1:p.Tyr152Cys | |
| ENST00000248553.6:c.425A>G | ENSP00000248553.6:p.Tyr142Cys | |
| ENST00000429938.1:c.-80A>G | ENSP00000405285.1:n.-80A>G | |
| ENST00000447574.1:c.*589A>G | ENSP00000414357.1:n.*589A>G | |
| NM_001540.3:c.425A>G , LRG_248t1:c.425A>G | NP_001531.1:p.Tyr142Cys | |
| NM_001540.4:c.425A>G | NP_001531.1:p.Tyr142Cys | |
| NM_001540.5:c.425A>G MANE Select | NP_001531.1:p.Tyr142Cys |