Linked Data
ClinVar Variation Id:
254862
dbSNP Id:
rs199884116
ExAC:
15:42695123 C / T
gnomAD v2:
15-42695123-C-T
gnomAD v3:
15-42402925-C-T
gnomAD v4:
15-42402925-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42402925C>T , CM000677.2:g.42402925C>T | GRCh38 |
| NC_000015.9:g.42695123C>T , CM000677.1:g.42695123C>T | GRCh37 |
| NC_000015.8:g.40482415C>T | NCBI36 |
| NG_008660.1:g.59823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1524C>T | ENSP00000183936.4:p.Ile508= | |
| ENST00000357568.8:c.1668C>T | ENSP00000350181.3:p.Ile556= | |
| ENST00000397163.8:c.1668C>T MANE Select | ENSP00000380349.3:p.Ile556= | |
| ENST00000466369.5:n.2177C>T | ||
| ENST00000483208.5:n.2557C>T | ||
| ENST00000495723.1:n.2557C>T | ||
| ENST00000549793.5:n.1899C>T | ||
| ENST00000638141.2:n.1539C>T | ||
| ENST00000673646.1:c.132C>T | ENSP00000501007.1:p.Ile44= | |
| ENST00000673705.1:c.309+3273C>T | ENSP00000501021.1:n.309+3273C>T | |
| ENST00000673813.1:n.580+10C>T | ||
| ENST00000318023.11:c.1524C>T | ENSP00000326281.8:p.Ile508= | |
| ENST00000349748.7:c.1524C>T | ENSP00000183936.4:p.Ile508= | |
| ENST00000357568.7:c.1668C>T | ENSP00000350181.3:p.Ile556= | |
| ENST00000397163.7:c.1668C>T | ENSP00000380349.3:p.Ile556= | |
| ENST00000397200.8:c.132C>T | ENSP00000380384.4:p.Ile44= | |
| ENST00000567071.5:c.127C>T | ||
| ENST00000569827.5:c.132C>T | ENSP00000454379.1:p.Ile44= | |
| NM_000070.2:c.1668C>T | NP_000061.1:p.Ile556= | |
| NM_024344.1:c.1668C>T | NP_077320.1:p.Ile556= | |
| NM_173087.1:c.1524C>T | NP_775110.1:p.Ile508= | |
| NM_173088.1:c.132C>T | NP_775111.1:p.Ile44= | |
| NM_000070.3:c.1668C>T MANE Select | NP_000061.1:p.Ile556= | |
| NM_024344.2:c.1668C>T | NP_077320.1:p.Ile556= | |
| NM_173087.2:c.1524C>T | NP_775110.1:p.Ile508= | |
| NM_173088.2:c.132C>T | NP_775111.1:p.Ile44= |