Linked Data
dbSNP Id:
rs374173325
ExAC:
2:73799392 C / G
gnomAD v2:
2-73799392-C-G
gnomAD v3:
2-73572265-C-G
gnomAD v4:
2-73572265-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572265C>G , CM000664.2:g.73572265C>G | GRCh38 |
| NC_000002.11:g.73799392C>G , CM000664.1:g.73799392C>G | GRCh37 |
| NC_000002.10:g.73652900C>G | NCBI36 |
| NG_011690.1:g.191513C>G , LRG_741:g.191513C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10007C>G | ENSP00000507671.1:p.Ser3336Cys | |
| ENST00000682801.1:c.10007C>G | ENSP00000507862.1:p.Ser3336Cys | |
| ENST00000682859.1:c.10007C>G | ENSP00000508222.1:p.Ser3336Cys | |
| ENST00000683791.1:c.3093C>G | ||
| ENST00000684460.1:c.7288C>G | ||
| ENST00000684548.1:c.10007C>G | ENSP00000507421.1:p.Ser3336Cys | |
| ENST00000684590.1:c.4454C>G | ENSP00000507376.1:p.Ser1485Cys | |
| ENST00000684656.1:c.7333C>G | ||
| ENST00000613296.6:c.10388C>G MANE Select | ENSP00000482968.1:p.Ser3463Cys | |
| ENST00000651057.1:c.542C>G | ENSP00000498504.1:p.Ser181Cys | |
| ENST00000651434.1:c.1744C>G | ||
| ENST00000652487.1:c.1485C>G | ||
| ENST00000423048.5:c.3879C>G | ENSP00000399833.1:n.3879C>G | |
| ENST00000484298.5:c.10262C>G | ENSP00000478155.1:p.Ser3421Cys | |
| ENST00000613296.4:c.10388C>G | ENSP00000482968.1:p.Ser3463Cys | |
| ENST00000614410.4:c.10388C>G | ENSP00000479094.1:p.Ser3463Cys | |
| ENST00000620466.4:n.4191C>G | ||
| NM_015120.4:c.10391C>G , LRG_741t1:c.10391C>G | NP_055935.4:p.Ser3464Cys | |
| NM_001378454.1:c.10388C>G MANE Select | NP_001365383.1:p.Ser3463Cys |