Linked Data
ClinVar Variation Id:
157529
dbSNP Id:
rs587781250
ExAC:
7:75933134 G / T
gnomAD v2:
7-75933134-G-T
gnomAD v3:
7-76303817-G-T
gnomAD v4:
7-76303817-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303817G>T , CM000669.2:g.76303817G>T | GRCh38 |
| NC_000007.13:g.75933134G>T , CM000669.1:g.75933134G>T | GRCh37 |
| NC_000007.12:g.75771070G>T | NCBI36 |
| NG_008995.1:g.6260G>T , LRG_248:g.6260G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.380G>T MANE Select | ENSP00000248553.6:p.Arg127Leu | |
| ENST00000674547.1:c.380G>T | ENSP00000502461.1:p.Arg127Leu | |
| ENST00000674638.1:c.375G>T | ENSP00000502651.1:p.Ala125= | |
| ENST00000674650.1:c.365-167G>T | ENSP00000501628.1:n.365-167G>T | |
| ENST00000674965.1:c.*36G>T | ENSP00000501765.1:n.*36G>T | |
| ENST00000675134.1:c.380G>T | ENSP00000501831.1:p.Arg127Leu | |
| ENST00000675226.1:c.379G>T | ENSP00000502510.1:p.Gly127Cys | |
| ENST00000675417.1:n.613G>T | ||
| ENST00000675538.1:c.415G>T | ENSP00000502495.1:p.Gly139Cys | |
| ENST00000675906.1:c.380G>T | ENSP00000502714.1:p.Arg127Leu | |
| ENST00000676195.1:n.96G>T | ||
| ENST00000676231.1:c.410G>T | ENSP00000502249.1:p.Arg137Leu | |
| ENST00000248553.6:c.380G>T | ENSP00000248553.6:p.Arg127Leu | |
| ENST00000429938.1:c.-125G>T | ENSP00000405285.1:n.-125G>T | |
| ENST00000447574.1:c.*544G>T | ENSP00000414357.1:n.*544G>T | |
| NM_001540.3:c.380G>T , LRG_248t1:c.380G>T | NP_001531.1:p.Arg127Leu | |
| NM_001540.4:c.380G>T | NP_001531.1:p.Arg127Leu | |
| NM_001540.5:c.380G>T MANE Select | NP_001531.1:p.Arg127Leu |