Linked Data
ClinVar Variation Id:
284234
dbSNP Id:
rs749929239
ExAC:
15:76603724 G / A
gnomAD v2:
15-76603724-G-A
gnomAD v3:
15-76311383-G-A
gnomAD v4:
15-76311383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76311383G>A , CM000677.2:g.76311383G>A | GRCh38 |
| NC_000015.9:g.76603724G>A , CM000677.1:g.76603724G>A | GRCh37 |
| NC_000015.8:g.74390779G>A | NCBI36 |
| NG_007077.2:g.5087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.6C>T | ENSP00000452777.2:p.Phe2= | |
| ENST00000560044.6:c.6C>T | ENSP00000452942.1:p.Phe2= | |
| ENST00000560595.6:c.6C>T | ENSP00000453345.2:p.Phe2= | |
| ENST00000565910.6:c.6C>T | ENSP00000458001.2:p.Phe2= | |
| ENST00000685118.1:c.6C>T | ENSP00000509473.1:p.Phe2= | |
| ENST00000685548.1:c.6C>T | ENSP00000510343.1:p.Phe2= | |
| ENST00000685863.1:c.6C>T | ENSP00000509361.1:p.Phe2= | |
| ENST00000687293.1:c.6C>T | ENSP00000509928.1:p.Phe2= | |
| ENST00000687975.1:c.6C>T | ENSP00000508690.1:p.Phe2= | |
| ENST00000688154.1:c.6C>T | ENSP00000510637.1:p.Phe2= | |
| ENST00000688389.1:c.6C>T | ENSP00000510491.1:p.Phe2= | |
| ENST00000688637.1:n.87C>T | ||
| ENST00000688908.1:c.6C>T | ENSP00000510242.1:p.Phe2= | |
| ENST00000689730.1:c.6C>T | ENSP00000510006.1:p.Phe2= | |
| ENST00000689739.1:n.87C>T | ||
| ENST00000690610.1:c.6C>T | ENSP00000510473.1:p.Phe2= | |
| ENST00000691021.1:c.6C>T | ENSP00000510805.1:p.Phe2= | |
| ENST00000691695.1:c.6C>T | ENSP00000509402.1:p.Phe2= | |
| ENST00000692691.1:c.6C>T | ENSP00000508808.1:p.Phe2= | |
| ENST00000693064.1:c.6C>T | ENSP00000510720.1:p.Phe2= | |
| ENST00000557943.6:c.6C>T MANE Select | ENSP00000452762.1:p.Phe2= | |
| ENST00000267950.12:c.6C>T | ENSP00000267950.8:p.Phe2= | |
| ENST00000433983.6:c.6C>T | ENSP00000399273.2:p.Phe2= | |
| ENST00000557943.5:c.6C>T | ENSP00000452762.1:p.Phe2= | |
| ENST00000559075.5:n.30C>T | ||
| ENST00000559386.1:c.6C>T | ENSP00000452777.1:p.Phe2= | |
| ENST00000559602.5:c.6C>T | ENSP00000452659.1:p.Phe2= | |
| ENST00000560044.5:c.6C>T | ENSP00000452942.1:p.Phe2= | |
| ENST00000560309.5:c.6C>T | ENSP00000453753.1:p.Phe2= | |
| ENST00000560595.5:c.6C>T | ENSP00000453345.1:p.Phe2= | |
| ENST00000560726.5:c.-546C>T | ENSP00000453098.1:n.-546C>T | |
| ENST00000560899.5:c.-546C>T | ENSP00000453422.1:n.-546C>T | |
| ENST00000561092.1:n.20C>T | ||
| NM_000126.3:c.6C>T | NP_000117.1:p.Phe2= | |
| NM_001127716.1:c.6C>T | NP_001121188.1:p.Phe2= | |
| XR_931766.1:n.61C>T | ||
| XR_931766.3:n.87C>T | ||
| NM_000126.4:c.6C>T MANE Select | NP_000117.1:p.Phe2= | |
| NM_001127716.2:c.6C>T | NP_001121188.1:p.Phe2= |