Linked Data
ClinVar Variation Id:
968495
dbSNP Id:
rs143928329
ExAC:
15:68504171 G / A
gnomAD v2:
15-68504171-G-A
gnomAD v3:
15-68211833-G-A
gnomAD v4:
15-68211833-G-A
COSMIC:
COSM1201424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211833G>A , CM000677.2:g.68211833G>A | GRCh38 |
| NC_000015.9:g.68504171G>A , CM000677.1:g.68504171G>A | GRCh37 |
| NC_000015.8:g.66291225G>A | NCBI36 |
| NG_008764.2:g.50379C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.328C>T MANE Select | ENSP00000249806.5:p.Arg110Cys | |
| ENST00000562767.2:c.84-14205C>T | ENSP00000456336.1:n.84-14205C>T | |
| ENST00000563917.2:n.170C>T | ||
| ENST00000565471.6:c.84-2074C>T | ENSP00000457384.1:n.84-2074C>T | |
| ENST00000635747.1:c.*231C>T | ENSP00000490627.1:n.*231C>T | |
| ENST00000636212.1:c.298-92C>T | ENSP00000489851.1:n.298-92C>T | |
| ENST00000636314.1:c.183-515C>T | ENSP00000490295.1:n.183-515C>T | |
| ENST00000636674.1:n.1311C>T | ||
| ENST00000636964.1:n.1500C>T | ||
| ENST00000637054.1:c.198+6703C>T | ENSP00000490807.1:n.198+6703C>T | |
| ENST00000637223.1:c.*201-515C>T | ENSP00000490010.1:n.*201-515C>T | |
| ENST00000637329.1:c.297C>T | ||
| ENST00000637450.1:c.213C>T | ENSP00000490204.1:p.His71= | |
| ENST00000637494.1:c.199-515C>T | ENSP00000490057.1:n.199-515C>T | |
| ENST00000637667.1:c.229C>T | ENSP00000489843.1:p.Arg77Cys | |
| ENST00000637823.1:c.224-190C>T | ||
| ENST00000637888.1:c.198+6703C>T | ENSP00000490546.1:n.198+6703C>T | |
| ENST00000638076.1:c.328C>T | ENSP00000490373.1:p.Arg110Cys | |
| ENST00000638144.1:n.130-515C>T | ||
| ENST00000646164.1:c.38+6703C>T | ||
| ENST00000249806.9:c.328C>T | ENSP00000249806.5:p.Arg110Cys | |
| ENST00000538696.5:c.424C>T | ENSP00000445770.1:p.Arg142Cys | |
| ENST00000562767.1:c.84-14205C>T | ENSP00000456336.1:n.84-14205C>T | |
| ENST00000563917.1:n.109C>T | ||
| ENST00000564752.1:c.328C>T | ENSP00000457822.1:p.Arg110Cys | |
| ENST00000565471.5:c.84-2074C>T | ENSP00000457384.1:n.84-2074C>T | |
| ENST00000566347.5:c.298-515C>T | ENSP00000457783.1:n.298-515C>T | |
| ENST00000567060.5:c.298-2113C>T | ENSP00000454818.1:n.298-2113C>T | |
| NM_017882.2:c.328C>T | NP_060352.1:p.Arg110Cys | |
| XR_931861.1:n.431C>T | ||
| NM_017882.3:c.328C>T MANE Select | NP_060352.1:p.Arg110Cys |