Linked Data
ClinVar Variation Id:
136737
ClinVar RCV Id:
RCV000124257
dbSNP Id:
rs587780886
gnomAD v2:
2-131350522-C-A
gnomAD v3:
2-130592949-C-A
gnomAD v4:
2-130592949-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130592949C>A , CM000664.2:g.130592949C>A | GRCh38 |
| NC_000002.11:g.131350522C>A , CM000664.1:g.131350522C>A | GRCh37 |
| NC_000002.10:g.131066992C>A | NCBI36 |
| NG_008148.1:g.11561G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259216.6:c.600G>T MANE Select | ENSP00000259216.5:p.Arg200= | |
| ENST00000259216.4:c.600G>T | ENSP00000259216.4:p.Arg200= | |
| ENST00000615342.4:c.485G>T | ENSP00000480526.1:p.Gly162Val | |
| ENST00000621673.4:c.375G>T | ENSP00000480843.1:p.Arg125= | |
| NM_001270420.1:c.485G>T | NP_001257349.1:p.Gly162Val | |
| NM_001270421.1:c.375G>T | NP_001257350.1:p.Arg125= | |
| NM_032545.3:c.600G>T | NP_115934.1:p.Arg200= | |
| NM_032545.4:c.600G>T MANE Select | NP_115934.1:p.Arg200= | |
| NM_001270420.2:c.485G>T | NP_001257349.1:p.Gly162Val | |
| NM_001270421.2:c.375G>T | NP_001257350.1:p.Arg125= |