Linked Data
ClinVar Variation Id:
435698
dbSNP Id:
rs373172891
ExAC:
14:50732098 T / C
gnomAD v2:
14-50732098-T-C
gnomAD v3:
14-50265380-T-C
gnomAD v4:
14-50265380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50265380T>C , CM000676.2:g.50265380T>C | GRCh38 |
| NC_000014.8:g.50732098T>C , CM000676.1:g.50732098T>C | GRCh37 |
| NC_000014.7:g.49801848T>C | NCBI36 |
| NG_008092.1:g.51850A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267436.9:c.1174A>G MANE Select | ENSP00000267436.4:p.Ile392Val | |
| ENST00000261699.8:c.1174A>G | ENSP00000261699.4:p.Ile392Val | |
| ENST00000267436.8:c.1174A>G | ENSP00000267436.4:p.Ile392Val | |
| ENST00000421284.7:c.1174A>G | ENSP00000405559.3:p.Ile392Val | |
| NM_024884.2:c.1174A>G | NP_079160.1:p.Ile392Val | |
| XM_005268075.3:c.1174A>G | XP_005268132.1:p.Ile392Val | |
| XM_011537166.1:c.1063A>G | XP_011535468.1:p.Ile355Val | |
| XM_011537167.1:c.1039A>G | XP_011535469.1:p.Ile347Val | |
| XM_011537168.1:c.628A>G | XP_011535470.1:p.Ile210Val | |
| XM_011537169.1:c.628A>G | XP_011535471.1:p.Ile210Val | |
| XM_005268075.5:c.1174A>G | XP_005268132.1:p.Ile392Val | |
| XM_011537166.3:c.1063A>G | XP_011535468.1:p.Ile355Val | |
| XM_011537167.3:c.1039A>G | XP_011535469.1:p.Ile347Val | |
| XM_011537168.3:c.628A>G | XP_011535470.1:p.Ile210Val | |
| XM_017021655.2:c.1063A>G | XP_016877144.1:p.Ile355Val | |
| XM_017021656.2:c.628A>G | XP_016877145.1:p.Ile210Val | |
| XM_017021657.2:c.628A>G | XP_016877146.1:p.Ile210Val | |
| NM_024884.3:c.1174A>G MANE Select | NP_079160.1:p.Ile392Val |