Linked Data
dbSNP Id:
rs782341138
gnomAD v2:
X-153063547-A-C
gnomAD v3:
X-153798092-A-C
gnomAD v4:
X-153798092-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153798092A>C , CM000685.2:g.153798092A>C | GRCh38 |
| NC_000023.10:g.153063547A>C , CM000685.1:g.153063547A>C | GRCh37 |
| NC_000023.9:g.152716741A>C | NCBI36 |
| NG_041795.1:g.8918A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.373A>C MANE Select | ENSP00000359103.3:p.Ile125Leu | |
| ENST00000320857.7:c.373A>C | ENSP00000317331.3:p.Ile125Leu | |
| ENST00000370085.3:c.298A>C | ENSP00000359102.3:p.Ile100Leu | |
| ENST00000370086.7:c.373A>C | ENSP00000359103.3:p.Ile125Leu | |
| ENST00000370087.5:c.373A>C | ENSP00000359104.1:p.Ile125Leu | |
| ENST00000447375.1:n.213A>C | ||
| ENST00000460616.5:n.2081A>C | ||
| ENST00000471880.5:n.576A>C | ||
| ENST00000482902.5:n.2200A>C | ||
| ENST00000485612.5:n.488A>C | ||
| ENST00000486204.5:n.445A>C | ||
| NM_001204526.1:c.406A>C | NP_001191455.1:p.Ile136Leu | |
| NM_001204527.1:c.397A>C | NP_001191456.1:p.Ile133Leu | |
| NM_006280.2:c.373A>C | NP_006271.1:p.Ile125Leu | |
| NR_037927.1:n.718A>C | ||
| XM_011531186.1:c.373A>C | XP_011529488.1:p.Ile125Leu | |
| XM_011531187.1:c.373A>C | XP_011529489.1:p.Ile125Leu | |
| XM_017029756.1:c.184A>C | XP_016885245.1:p.Ile62Leu | |
| XM_017029757.1:c.184A>C | XP_016885246.1:p.Ile62Leu | |
| XM_024452428.1:c.184A>C | XP_024308196.1:p.Ile62Leu | |
| NM_001204527.2:c.397A>C | NP_001191456.1:p.Ile133Leu | |
| NM_006280.3:c.373A>C MANE Select | NP_006271.1:p.Ile125Leu |