Linked Data
dbSNP Id:
rs780354479
ExAC:
7:107323918 A / G
gnomAD v2:
7-107323918-A-G
gnomAD v3:
7-107683473-A-G
gnomAD v4:
7-107683473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107683473A>G , CM000669.2:g.107683473A>G | GRCh38 |
| NC_000007.13:g.107323918A>G , CM000669.1:g.107323918A>G | GRCh37 |
| NC_000007.12:g.107111154A>G | NCBI36 |
| NG_008489.1:g.27839A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.937A>G MANE Select | ENSP00000494017.1:p.Ile313Val | |
| ENST00000265715.7:c.937A>G | ENSP00000265715.3:p.Ile313Val | |
| NM_000441.1:c.937A>G | NP_000432.1:p.Ile313Val | |
| XM_005250425.1:c.937A>G | XP_005250482.1:p.Ile313Val | |
| XM_006716025.2:c.937A>G | XP_006716088.1:p.Ile313Val | |
| XM_005250425.2:c.937A>G | XP_005250482.1:p.Ile313Val | |
| XM_006716025.3:c.937A>G | XP_006716088.1:p.Ile313Val | |
| XM_017012318.1:c.937A>G | XP_016867807.1:p.Ile313Val | |
| NM_000441.2:c.937A>G MANE Select | NP_000432.1:p.Ile313Val |