Linked Data
ClinVar Variation Id:
136799
dbSNP Id:
rs144507672
ExAC:
15:68502055 G / A
gnomAD v2:
15-68502055-G-A
gnomAD v3:
15-68209717-G-A
gnomAD v4:
15-68209717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209717G>A , CM000677.2:g.68209717G>A | GRCh38 |
| NC_000015.9:g.68502055G>A , CM000677.1:g.68502055G>A | GRCh37 |
| NC_000015.8:g.66289109G>A | NCBI36 |
| NG_008764.2:g.52495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.585C>T MANE Select | ENSP00000249806.5:p.Gly195= | |
| ENST00000562767.2:c.84-12089C>T | ENSP00000456336.1:n.84-12089C>T | |
| ENST00000563917.2:n.427C>T | ||
| ENST00000565471.6:c.126C>T | ENSP00000457384.1:p.Gly42= | |
| ENST00000635747.1:c.*488C>T | ENSP00000490627.1:n.*488C>T | |
| ENST00000636212.1:c.*255C>T | ENSP00000489851.1:n.*255C>T | |
| ENST00000636314.1:c.281C>T | ENSP00000490295.1:p.Ala94Val | |
| ENST00000636674.1:n.1687C>T | ||
| ENST00000636964.1:n.2113C>T | ||
| ENST00000637054.1:c.198+8819C>T | ENSP00000490807.1:n.198+8819C>T | |
| ENST00000637223.1:c.*299C>T | ENSP00000490010.1:n.*299C>T | |
| ENST00000637329.1:c.554C>T | ||
| ENST00000637450.1:c.*239C>T | ENSP00000490204.1:n.*239C>T | |
| ENST00000637494.1:c.297C>T | ENSP00000490057.1:p.Gly99= | |
| ENST00000637667.1:c.486C>T | ENSP00000489843.1:p.Gly162= | |
| ENST00000637823.1:c.410C>T | ||
| ENST00000637888.1:c.198+8819C>T | ENSP00000490546.1:n.198+8819C>T | |
| ENST00000638076.1:c.*188C>T | ENSP00000490373.1:n.*188C>T | |
| ENST00000638144.1:n.228C>T | ||
| ENST00000646164.1:c.38+8819C>T | ||
| ENST00000249806.9:c.585C>T | ENSP00000249806.5:p.Gly195= | |
| ENST00000538696.5:c.681C>T | ENSP00000445770.1:p.Gly227= | |
| ENST00000562767.1:c.84-12089C>T | ENSP00000456336.1:n.84-12089C>T | |
| ENST00000563917.1:n.485C>T | ||
| ENST00000564752.1:c.611C>T | ENSP00000457822.1:p.Ala204Val | |
| ENST00000565471.5:c.126C>T | ENSP00000457384.1:p.Gly42= | |
| ENST00000566347.5:c.396C>T | ENSP00000457783.1:p.Gly132= | |
| ENST00000567060.5:c.301C>T | ENSP00000454818.1:p.Leu101= | |
| NM_017882.2:c.585C>T | NP_060352.1:p.Gly195= | |
| XR_931861.1:n.807C>T | ||
| NM_017882.3:c.585C>T MANE Select | NP_060352.1:p.Gly195= |