Linked Data
ClinVar Variation Id:
30600
dbSNP Id:
rs154774634
ExAC:
15:68504191 C / T
gnomAD v2:
15-68504191-C-T
gnomAD v3:
15-68211853-C-T
gnomAD v4:
15-68211853-C-T
PubMed:
PMID:21549341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211853C>T , CM000677.2:g.68211853C>T | GRCh38 |
| NC_000015.9:g.68504191C>T , CM000677.1:g.68504191C>T | GRCh37 |
| NC_000015.8:g.66291245C>T | NCBI36 |
| NG_008764.2:g.50359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.308G>A MANE Select | ENSP00000249806.5:p.Arg103Gln | |
| ENST00000562767.2:c.84-14225G>A | ENSP00000456336.1:n.84-14225G>A | |
| ENST00000563917.2:n.150G>A | ||
| ENST00000565471.6:c.84-2094G>A | ENSP00000457384.1:n.84-2094G>A | |
| ENST00000635747.1:c.*211G>A | ENSP00000490627.1:n.*211G>A | |
| ENST00000636212.1:c.298-112G>A | ENSP00000489851.1:n.298-112G>A | |
| ENST00000636314.1:c.183-535G>A | ENSP00000490295.1:n.183-535G>A | |
| ENST00000636674.1:n.1291G>A | ||
| ENST00000636964.1:n.1480G>A | ||
| ENST00000637054.1:c.198+6683G>A | ENSP00000490807.1:n.198+6683G>A | |
| ENST00000637223.1:c.*201-535G>A | ENSP00000490010.1:n.*201-535G>A | |
| ENST00000637329.1:c.277G>A | ||
| ENST00000637450.1:c.193G>A | ENSP00000490204.1:p.Gly65Ser | |
| ENST00000637494.1:c.199-535G>A | ENSP00000490057.1:n.199-535G>A | |
| ENST00000637667.1:c.209G>A | ENSP00000489843.1:p.Arg70Gln | |
| ENST00000637823.1:c.224-210G>A | ||
| ENST00000637888.1:c.198+6683G>A | ENSP00000490546.1:n.198+6683G>A | |
| ENST00000638076.1:c.308G>A | ENSP00000490373.1:p.Arg103Gln | |
| ENST00000638144.1:n.130-535G>A | ||
| ENST00000646164.1:c.38+6683G>A | ||
| ENST00000249806.9:c.308G>A | ENSP00000249806.5:p.Arg103Gln | |
| ENST00000538696.5:c.404G>A | ENSP00000445770.1:p.Arg135Gln | |
| ENST00000562767.1:c.84-14225G>A | ENSP00000456336.1:n.84-14225G>A | |
| ENST00000563917.1:n.89G>A | ||
| ENST00000564752.1:c.308G>A | ENSP00000457822.1:p.Arg103Gln | |
| ENST00000565471.5:c.84-2094G>A | ENSP00000457384.1:n.84-2094G>A | |
| ENST00000566347.5:c.298-535G>A | ENSP00000457783.1:n.298-535G>A | |
| ENST00000567060.5:c.298-2133G>A | ENSP00000454818.1:n.298-2133G>A | |
| NM_017882.2:c.308G>A | NP_060352.1:p.Arg103Gln | |
| XR_931861.1:n.411G>A | ||
| NM_017882.3:c.308G>A MANE Select | NP_060352.1:p.Arg103Gln |