Linked Data
ClinVar Variation Id:
1058949
ClinVar RCV Id:
RCV001368142
dbSNP Id:
rs142133113
ExAC:
1:1168067 C / G
gnomAD v2:
1-1168067-C-G
gnomAD v3:
1-1232687-C-G
gnomAD v4:
1-1232687-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232687C>G , CM000663.2:g.1232687C>G | GRCh38 |
| NC_000001.10:g.1168067C>G , CM000663.1:g.1168067C>G | GRCh37 |
| NC_000001.9:g.1157930C>G | NCBI36 |
| NG_030007.1:g.4381G>C | |
| NG_033265.1:g.5439C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.409C>G MANE Select | ENSP00000368496.2:p.Leu137Val | |
| ENST00000379198.3:c.409C>G | ENSP00000368496.2:p.Leu137Val | |
| NM_080605.3:c.409C>G | NP_542172.2:p.Leu137Val | |
| NM_080605.4:c.409C>G MANE Select | NP_542172.2:p.Leu137Val |