Linked Data
ClinVar Variation Id:
43565
dbSNP Id:
rs111033242
ExAC:
7:107315495 C / G
gnomAD v2:
7-107315495-C-G
gnomAD v4:
7-107675050-C-G
ERepo:
CA132738/MONDO:0010134/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107675050C>G , CM000669.2:g.107675050C>G | GRCh38 |
| NC_000007.13:g.107315495C>G , CM000669.1:g.107315495C>G | GRCh37 |
| NC_000007.12:g.107102731C>G | NCBI36 |
| NG_008489.1:g.19416C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.706C>G MANE Select | ENSP00000494017.1:p.Leu236Val | |
| ENST00000265715.7:c.706C>G | ENSP00000265715.3:p.Leu236Val | |
| NM_000441.1:c.706C>G | NP_000432.1:p.Leu236Val | |
| XM_005250425.1:c.706C>G | XP_005250482.1:p.Leu236Val | |
| XM_006716025.2:c.706C>G | XP_006716088.1:p.Leu236Val | |
| XM_005250425.2:c.706C>G | XP_005250482.1:p.Leu236Val | |
| XM_006716025.3:c.706C>G | XP_006716088.1:p.Leu236Val | |
| XM_017012318.1:c.706C>G | XP_016867807.1:p.Leu236Val | |
| NM_000441.2:c.706C>G MANE Select | NP_000432.1:p.Leu236Val |