Linked Data
dbSNP Id:
rs1448131970
gnomAD v2:
3-121712527-T-C
gnomAD v3:
3-121993680-T-C
gnomAD v4:
3-121993680-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993680T>C , CM000665.2:g.121993680T>C | GRCh38 |
| NC_000003.11:g.121712527T>C , CM000665.1:g.121712527T>C | GRCh37 |
| NC_000003.10:g.123195217T>C | NCBI36 |
| NG_031870.1:g.33601A>G | |
| NG_031870.2:g.71875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1069A>G MANE Select | ENSP00000345667.5:p.Ile357Val | |
| ENST00000460554.2:n.1019A>G | ||
| ENST00000642615.1:c.*252A>G | ENSP00000495499.1:n.*252A>G | |
| ENST00000273691.7:c.937A>G | ENSP00000273691.3:p.Ile313Val | |
| ENST00000344209.9:c.1069A>G | ENSP00000345667.5:p.Ile357Val | |
| ENST00000393631.5:c.802A>G | ENSP00000377251.1:p.Ile268Val | |
| ENST00000460554.1:n.1171A>G | ||
| ENST00000462014.1:c.973A>G | ENSP00000419414.1:p.Ile325Val | |
| NM_001199799.1:c.1069A>G | NP_001186728.1:p.Ile357Val | |
| NM_001199800.1:c.802A>G | NP_001186729.1:p.Ile268Val | |
| NM_175924.3:c.937A>G | NP_787120.1:p.Ile313Val | |
| XM_005247389.3:c.973A>G | XP_005247446.1:p.Ile325Val | |
| XM_011512738.1:c.1069A>G | XP_011511040.1:p.Ile357Val | |
| XM_011512739.1:c.532A>G | XP_011511041.1:p.Ile178Val | |
| XM_005247389.4:c.973A>G | XP_005247446.1:p.Ile325Val | |
| XM_011512738.2:c.1069A>G | XP_011511040.1:p.Ile357Val | |
| XM_011512739.2:c.532A>G | XP_011511041.1:p.Ile178Val | |
| NM_001199799.2:c.1069A>G MANE Select | NP_001186728.1:p.Ile357Val | |
| NM_001199800.2:c.802A>G | NP_001186729.1:p.Ile268Val | |
| NM_175924.4:c.937A>G | NP_787120.1:p.Ile313Val |