Linked Data
ClinVar Variation Id:
37138
ClinVar RCV Id:
RCV000030769
dbSNP Id:
rs368062092
ExAC:
1:10042629 G / T
gnomAD v2:
1-10042629-G-T
gnomAD v3:
1-9982571-G-T
gnomAD v4:
1-9982571-G-T
PubMed:
PMID:22842230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982571G>T , CM000663.2:g.9982571G>T | GRCh38 |
| NC_000001.10:g.10042629G>T , CM000663.1:g.10042629G>T | GRCh37 |
| NC_000001.9:g.9965216G>T | NCBI36 |
| NG_032954.1:g.44144G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.710G>T MANE Select | ENSP00000366410.1:p.Arg237Leu | |
| ENST00000377205.5:c.710G>T | ENSP00000366410.1:p.Arg237Leu | |
| ENST00000462686.1:c.710G>T | ENSP00000435134.1:p.Arg237Leu | |
| ENST00000496751.1:c.119+1401G>T | ||
| NM_001297778.1:c.710G>T | NP_001284707.1:p.Arg237Leu | |
| NM_022787.3:c.710G>T | NP_073624.2:p.Arg237Leu | |
| XM_011541971.1:c.439+1401G>T | XP_011540273.1:n.439+1401G>T | |
| XM_011541971.2:c.439+1401G>T | XP_011540273.1:n.439+1401G>T | |
| XM_017002107.2:c.710G>T | XP_016857596.1:p.Arg237Leu | |
| XM_017002108.2:c.439+1401G>T | XP_016857597.1:n.439+1401G>T | |
| NM_022787.4:c.710G>T MANE Select | NP_073624.2:p.Arg237Leu |