Linked Data
ClinVar Variation Id:
2737686
ClinVar RCV Id:
RCV003508894
dbSNP Id:
rs763098034
ExAC:
7:75932138 C / T
gnomAD v2:
7-75932138-C-T
gnomAD v3:
7-76302821-C-T
gnomAD v4:
7-76302821-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76302821C>T , CM000669.2:g.76302821C>T | GRCh38 |
| NC_000007.13:g.75932138C>T , CM000669.1:g.75932138C>T | GRCh37 |
| NC_000007.12:g.75770074C>T | NCBI36 |
| NG_008995.1:g.5264C>T , LRG_248:g.5264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.109C>T MANE Select | ENSP00000248553.6:p.Arg37Trp | |
| ENST00000674547.1:c.109C>T | ENSP00000502461.1:p.Arg37Trp | |
| ENST00000674560.1:n.149C>T | ||
| ENST00000674638.1:c.109C>T | ENSP00000502651.1:p.Arg37Trp | |
| ENST00000674650.1:c.109C>T | ENSP00000501628.1:p.Arg37Trp | |
| ENST00000674965.1:c.109C>T | ENSP00000501765.1:p.Arg37Trp | |
| ENST00000675134.1:c.109C>T | ENSP00000501831.1:p.Arg37Trp | |
| ENST00000675226.1:c.109C>T | ENSP00000502510.1:p.Arg37Trp | |
| ENST00000675488.1:n.149C>T | ||
| ENST00000675538.1:c.109C>T | ENSP00000502495.1:p.Arg37Trp | |
| ENST00000675624.1:n.149C>T | ||
| ENST00000675733.1:n.149C>T | ||
| ENST00000675906.1:c.109C>T | ENSP00000502714.1:p.Arg37Trp | |
| ENST00000676231.1:c.109C>T | ENSP00000502249.1:p.Arg37Trp | |
| ENST00000676398.1:n.149C>T | ||
| ENST00000248553.6:c.109C>T | ENSP00000248553.6:p.Arg37Trp | |
| ENST00000447574.1:c.109C>T | ENSP00000414357.1:p.Arg37Trp | |
| NM_001540.3:c.109C>T , LRG_248t1:c.109C>T | NP_001531.1:p.Arg37Trp | |
| NM_001540.4:c.109C>T | NP_001531.1:p.Arg37Trp | |
| NM_001540.5:c.109C>T MANE Select | NP_001531.1:p.Arg37Trp |