Linked Data
ClinVar Variation Id:
285580
dbSNP Id:
rs749863676
ExAC:
15:42684892 A / T
gnomAD v2:
15-42684892-A-T
gnomAD v3:
15-42392694-A-T
gnomAD v4:
15-42392694-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42392694A>T , CM000677.2:g.42392694A>T | GRCh38 |
| NC_000015.9:g.42684892A>T , CM000677.1:g.42684892A>T | GRCh37 |
| NC_000015.8:g.40472184A>T | NCBI36 |
| NG_008660.1:g.49592A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.857A>T | ENSP00000183936.4:p.His286Leu | |
| ENST00000357568.8:c.1001A>T | ENSP00000350181.3:p.His334Leu | |
| ENST00000397163.8:c.1001A>T MANE Select | ENSP00000380349.3:p.His334Leu | |
| ENST00000466369.5:n.1510A>T | ||
| ENST00000483208.5:n.1232A>T | ||
| ENST00000495723.1:n.1232A>T | ||
| ENST00000549793.5:n.1232A>T | ||
| ENST00000638141.2:n.872A>T | ||
| ENST00000673705.1:c.71-4106A>T | ENSP00000501021.1:n.71-4106A>T | |
| ENST00000318023.11:c.857A>T | ENSP00000326281.8:p.His286Leu | |
| ENST00000349748.7:c.857A>T | ENSP00000183936.4:p.His286Leu | |
| ENST00000357568.7:c.1001A>T | ENSP00000350181.3:p.His334Leu | |
| ENST00000397163.7:c.1001A>T | ENSP00000380349.3:p.His334Leu | |
| NM_000070.2:c.1001A>T | NP_000061.1:p.His334Leu | |
| NM_024344.1:c.1001A>T | NP_077320.1:p.His334Leu | |
| NM_173087.1:c.857A>T | NP_775110.1:p.His286Leu | |
| NM_000070.3:c.1001A>T MANE Select | NP_000061.1:p.His334Leu | |
| NM_024344.2:c.1001A>T | NP_077320.1:p.His334Leu | |
| NM_173087.2:c.857A>T | NP_775110.1:p.His286Leu |