Linked Data
ClinVar Variation Id:
589880
dbSNP Id:
rs1227254537
gnomAD v2:
15-68504074-T-C
gnomAD v4:
15-68211736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211736T>C , CM000677.2:g.68211736T>C | GRCh38 |
| NC_000015.9:g.68504074T>C , CM000677.1:g.68504074T>C | GRCh37 |
| NC_000015.8:g.66291128T>C | NCBI36 |
| NG_008764.2:g.50476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.425A>G MANE Select | ENSP00000249806.5:p.Tyr142Cys | |
| ENST00000562767.2:c.84-14108A>G | ENSP00000456336.1:n.84-14108A>G | |
| ENST00000563917.2:n.267A>G | ||
| ENST00000565471.6:c.84-1977A>G | ENSP00000457384.1:n.84-1977A>G | |
| ENST00000635747.1:c.*328A>G | ENSP00000490627.1:n.*328A>G | |
| ENST00000636212.1:c.303A>G | ENSP00000489851.1:p.Leu101= | |
| ENST00000636314.1:c.183-418A>G | ENSP00000490295.1:n.183-418A>G | |
| ENST00000636674.1:n.1408A>G | ||
| ENST00000636964.1:n.1597A>G | ||
| ENST00000637054.1:c.198+6800A>G | ENSP00000490807.1:n.198+6800A>G | |
| ENST00000637223.1:c.*201-418A>G | ENSP00000490010.1:n.*201-418A>G | |
| ENST00000637329.1:c.394A>G | ||
| ENST00000637450.1:c.*79A>G | ENSP00000490204.1:n.*79A>G | |
| ENST00000637494.1:c.199-418A>G | ENSP00000490057.1:n.199-418A>G | |
| ENST00000637667.1:c.326A>G | ENSP00000489843.1:p.Tyr109Cys | |
| ENST00000637823.1:c.224-93A>G | ||
| ENST00000637888.1:c.198+6800A>G | ENSP00000490546.1:n.198+6800A>G | |
| ENST00000638076.1:c.425A>G | ENSP00000490373.1:p.Tyr142Cys | |
| ENST00000638144.1:n.130-418A>G | ||
| ENST00000646164.1:c.38+6800A>G | ||
| ENST00000249806.9:c.425A>G | ENSP00000249806.5:p.Tyr142Cys | |
| ENST00000538696.5:c.521A>G | ENSP00000445770.1:p.Tyr174Cys | |
| ENST00000562767.1:c.84-14108A>G | ENSP00000456336.1:n.84-14108A>G | |
| ENST00000563917.1:n.206A>G | ||
| ENST00000564752.1:c.425A>G | ENSP00000457822.1:p.Tyr142Cys | |
| ENST00000565471.5:c.84-1977A>G | ENSP00000457384.1:n.84-1977A>G | |
| ENST00000566347.5:c.298-418A>G | ENSP00000457783.1:n.298-418A>G | |
| ENST00000567060.5:c.298-2016A>G | ENSP00000454818.1:n.298-2016A>G | |
| NM_017882.2:c.425A>G | NP_060352.1:p.Tyr142Cys | |
| XR_931861.1:n.528A>G | ||
| NM_017882.3:c.425A>G MANE Select | NP_060352.1:p.Tyr142Cys |