Linked Data
dbSNP Id:
rs886186202
gnomAD v2:
15-68500728-T-C
gnomAD v3:
15-68208390-T-C
gnomAD v4:
15-68208390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208390T>C , CM000677.2:g.68208390T>C | GRCh38 |
| NC_000015.9:g.68500728T>C , CM000677.1:g.68500728T>C | GRCh37 |
| NC_000015.8:g.66287782T>C | NCBI36 |
| NG_008764.2:g.53822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.686A>G MANE Select | ENSP00000249806.5:p.Gln229Arg | |
| ENST00000562767.2:c.84-10762A>G | ENSP00000456336.1:n.84-10762A>G | |
| ENST00000563917.2:n.528A>G | ||
| ENST00000565471.6:c.227A>G | ENSP00000457384.1:p.Gln76Arg | |
| ENST00000635747.1:c.*589A>G | ENSP00000490627.1:n.*589A>G | |
| ENST00000636212.1:c.*356A>G | ENSP00000489851.1:n.*356A>G | |
| ENST00000636674.1:n.1788A>G | ||
| ENST00000636964.1:n.2214A>G | ||
| ENST00000637054.1:c.198+10146A>G | ENSP00000490807.1:n.198+10146A>G | |
| ENST00000637329.1:c.655A>G | ||
| ENST00000637450.1:c.*340A>G | ENSP00000490204.1:n.*340A>G | |
| ENST00000637494.1:c.398A>G | ENSP00000490057.1:p.Gln133Arg | |
| ENST00000637667.1:c.587A>G | ENSP00000489843.1:p.Gln196Arg | |
| ENST00000637823.1:c.511A>G | ||
| ENST00000637888.1:c.198+10146A>G | ENSP00000490546.1:n.198+10146A>G | |
| ENST00000638076.1:c.*289A>G | ENSP00000490373.1:n.*289A>G | |
| ENST00000638144.1:n.329A>G | ||
| ENST00000646164.1:c.39-8709A>G | ||
| ENST00000249806.9:c.686A>G | ENSP00000249806.5:p.Gln229Arg | |
| ENST00000538696.5:c.782A>G | ENSP00000445770.1:p.Gln261Arg | |
| ENST00000562767.1:c.84-10762A>G | ENSP00000456336.1:n.84-10762A>G | |
| ENST00000564752.1:c.*70A>G | ENSP00000457822.1:n.*70A>G | |
| ENST00000565471.5:c.227A>G | ENSP00000457384.1:p.Gln76Arg | |
| ENST00000566347.5:c.497A>G | ENSP00000457783.1:p.Gln166Arg | |
| ENST00000567060.5:c.*84A>G | ENSP00000454818.1:n.*84A>G | |
| NM_017882.2:c.686A>G | NP_060352.1:p.Gln229Arg | |
| NM_017882.3:c.686A>G MANE Select | NP_060352.1:p.Gln229Arg |