Linked Data
ClinVar Variation Id:
68094
dbSNP Id:
rs154774640
gnomAD v2:
15-68510922-G-C
gnomAD v3:
15-68218584-G-C
gnomAD v4:
15-68218584-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218584G>C , CM000677.2:g.68218584G>C | GRCh38 |
| NC_000015.9:g.68510922G>C , CM000677.1:g.68510922G>C | GRCh37 |
| NC_000015.8:g.66297976G>C | NCBI36 |
| NG_008764.2:g.43628C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.150C>G MANE Select | ENSP00000249806.5:p.Tyr50Ter | |
| ENST00000562767.2:c.83+10918C>G | ENSP00000456336.1:n.83+10918C>G | |
| ENST00000563917.2:n.41-4196C>G | ||
| ENST00000565471.6:c.84-8825C>G | ENSP00000457384.1:n.84-8825C>G | |
| ENST00000569336.2:n.59C>G | ||
| ENST00000635747.1:c.*53C>G | ENSP00000490627.1:n.*53C>G | |
| ENST00000636020.1:n.282C>G | ||
| ENST00000636212.1:c.150C>G | ENSP00000489851.1:p.Tyr50Ter | |
| ENST00000636314.1:c.84-4196C>G | ENSP00000490295.1:n.84-4196C>G | |
| ENST00000636876.1:c.*170C>G | ENSP00000489950.1:n.*170C>G | |
| ENST00000637054.1:c.150C>G | ENSP00000490807.1:p.Tyr50Ter | |
| ENST00000637223.1:c.*53C>G | ENSP00000490010.1:n.*53C>G | |
| ENST00000637329.1:c.61C>G | ||
| ENST00000637450.1:c.84-4196C>G | ENSP00000490204.1:n.84-4196C>G | |
| ENST00000637494.1:c.150C>G | ENSP00000490057.1:p.Tyr50Ter | |
| ENST00000637667.1:c.150C>G | ENSP00000489843.1:p.Tyr50Ter | |
| ENST00000637823.1:c.76C>G | ||
| ENST00000637888.1:c.150C>G | ENSP00000490546.1:p.Tyr50Ter | |
| ENST00000638076.1:c.150C>G | ENSP00000490373.1:p.Tyr50Ter | |
| ENST00000638144.1:n.31-4196C>G | ||
| ENST00000249806.9:c.150C>G | ENSP00000249806.5:p.Tyr50Ter | |
| ENST00000538696.5:c.246C>G | ENSP00000445770.1:p.Tyr82Ter | |
| ENST00000562767.1:c.83+10918C>G | ENSP00000456336.1:n.83+10918C>G | |
| ENST00000564752.1:c.150C>G | ENSP00000457822.1:p.Tyr50Ter | |
| ENST00000564846.1:n.582C>G | ||
| ENST00000565471.5:c.84-8825C>G | ENSP00000457384.1:n.84-8825C>G | |
| ENST00000566347.5:c.150C>G | ENSP00000457783.1:p.Tyr50Ter | |
| ENST00000567060.5:c.150C>G | ENSP00000454818.1:p.Tyr50Ter | |
| ENST00000569336.1:n.236C>G | ||
| NM_017882.2:c.150C>G | NP_060352.1:p.Tyr50Ter | |
| XR_931861.1:n.253C>G | ||
| NM_017882.3:c.150C>G MANE Select | NP_060352.1:p.Tyr50Ter |