Linked Data
ClinVar Variation Id:
477567
dbSNP Id:
rs560348826
ExAC:
15:67479821 C / T
gnomAD v2:
15-67479821-C-T
gnomAD v3:
15-67187483-C-T
gnomAD v4:
15-67187483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67187483C>T , CM000677.2:g.67187483C>T | GRCh38 |
| NC_000015.9:g.67479821C>T , CM000677.1:g.67479821C>T | GRCh37 |
| NC_000015.8:g.65266875C>T | NCBI36 |
| NG_011990.1:g.126627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558428.6:c.543C>T | ENSP00000454165.2:p.Phe181= | |
| ENST00000558739.2:c.813C>T | ENSP00000453684.2:p.Phe271= | |
| ENST00000558827.2:c.543C>T | ENSP00000452767.2:p.Phe181= | |
| ENST00000559460.6:c.813C>T | ENSP00000453082.2:p.Phe271= | |
| ENST00000560424.2:c.1239C>T | ENSP00000455540.2:p.Phe413= | |
| ENST00000327367.9:c.1128C>T MANE Select | ENSP00000332973.4:p.Phe376= | |
| ENST00000679624.1:c.813C>T | ENSP00000505445.1:p.Phe271= | |
| ENST00000680689.1:n.831C>T | ||
| ENST00000681239.1:c.813C>T | ENSP00000505641.1:p.Phe271= | |
| ENST00000327367.8:c.1128C>T | ENSP00000332973.4:p.Phe376= | |
| ENST00000439724.7:c.996C>T | ENSP00000401133.3:p.Phe332= | |
| ENST00000537194.6:c.543C>T | ENSP00000445348.2:p.Phe181= | |
| ENST00000540846.6:c.813C>T | ENSP00000437757.2:p.Phe271= | |
| ENST00000558763.1:n.822C>T | ||
| ENST00000560402.1:n.283-5390C>T | ||
| ENST00000560424.1:c.320C>T | ||
| NM_001145102.1:c.813C>T | NP_001138574.1:p.Phe271= | |
| NM_001145103.1:c.996C>T | NP_001138575.1:p.Phe332= | |
| NM_001145104.1:c.543C>T | NP_001138576.1:p.Phe181= | |
| NM_005902.3:c.1128C>T | NP_005893.1:p.Phe376= | |
| XM_011521559.1:c.996C>T | XP_011519861.1:p.Phe332= | |
| XM_011521560.1:c.981C>T | XP_011519862.1:p.Phe327= | |
| XM_011521559.3:c.996C>T | XP_011519861.1:p.Phe332= | |
| NM_005902.4:c.1128C>T MANE Select | NP_005893.1:p.Phe376= | |
| NM_001145102.2:c.813C>T | NP_001138574.1:p.Phe271= | |
| NM_001145103.2:c.996C>T | NP_001138575.1:p.Phe332= | |
| NM_001145104.2:c.543C>T | NP_001138576.1:p.Phe181= |