Linked Data
ClinVar Variation Id:
8318
dbSNP Id:
rs104893690
gnomAD v4:
3-122283699-G-A
PubMed:
PMID:8675635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122283699G>A , CM000665.2:g.122283699G>A | GRCh38 |
| NC_000003.11:g.122002546G>A , CM000665.1:g.122002546G>A | GRCh37 |
| NC_000003.10:g.123485236G>A | NCBI36 |
| NG_009058.1:g.105017G>A | |
| NG_009058.2:g.105032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.1514G>A | ENSP00000418685.2:p.Cys505Tyr | |
| ENST00000498619.4:c.1775G>A | ENSP00000420194.1:p.Cys592Tyr | |
| ENST00000638421.1:c.1745G>A | ENSP00000492190.1:p.Cys582Tyr | |
| ENST00000639785.2:c.1745G>A MANE Select | ENSP00000491584.2:p.Cys582Tyr | |
| ENST00000490131.5:c.1745G>A | ENSP00000418685.1:p.Cys582Tyr | |
| ENST00000498619.2:c.1775G>A | ENSP00000420194.1:p.Cys592Tyr | |
| NM_000388.3:c.1745G>A | NP_000379.2:p.Cys582Tyr | |
| NM_001178065.1:c.1775G>A | NP_001171536.1:p.Cys592Tyr | |
| XM_005247836.2:c.1745G>A | XP_005247893.1:p.Cys582Tyr | |
| XM_005247837.2:c.1262G>A | XP_005247894.1:p.Cys421Tyr | |
| XM_006713789.2:c.1745G>A | XP_006713852.1:p.Cys582Tyr | |
| XM_011513237.1:c.1745G>A | XP_011511539.1:p.Cys582Tyr | |
| XM_011513238.1:c.1745G>A | XP_011511540.1:p.Cys582Tyr | |
| XM_011513239.1:c.1157G>A | XP_011511541.1:p.Cys386Tyr | |
| XM_006713789.3:c.1745G>A | XP_006713852.1:p.Cys582Tyr | |
| XM_017007324.1:c.1745G>A | XP_016862813.1:p.Cys582Tyr | |
| XM_017007325.1:c.1745G>A | XP_016862814.1:p.Cys582Tyr | |
| NM_000388.4:c.1745G>A MANE Select | NP_000379.3:p.Cys582Tyr | |
| NM_001178065.2:c.1775G>A | NP_001171536.2:p.Cys592Tyr |