Linked Data
ClinVar Variation Id:
280474
dbSNP Id:
rs367877017
gnomAD v2:
2-73800208-C-A
gnomAD v4:
2-73573081-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573081C>A , CM000664.2:g.73573081C>A | GRCh38 |
| NC_000002.11:g.73800208C>A , CM000664.1:g.73800208C>A | GRCh37 |
| NC_000002.10:g.73653716C>A | NCBI36 |
| NG_011690.1:g.192329C>A , LRG_741:g.192329C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10823C>A | ENSP00000507671.1:p.Ser3608Ter | |
| ENST00000682801.1:c.10823C>A | ENSP00000507862.1:p.Ser3608Ter | |
| ENST00000682859.1:c.10823C>A | ENSP00000508222.1:p.Ser3608Ter | |
| ENST00000683791.1:c.3909C>A | ||
| ENST00000684460.1:c.8104C>A | ||
| ENST00000684548.1:c.10823C>A | ENSP00000507421.1:p.Ser3608Ter | |
| ENST00000684590.1:c.5270C>A | ENSP00000507376.1:p.Ser1757Ter | |
| ENST00000684656.1:c.8149C>A | ||
| ENST00000613296.6:c.11204C>A MANE Select | ENSP00000482968.1:p.Ser3735Ter | |
| ENST00000651057.1:c.1358C>A | ENSP00000498504.1:p.Ser453Ter | |
| ENST00000651434.1:c.2560C>A | ||
| ENST00000651750.1:c.592C>A | ||
| ENST00000652487.1:c.2301C>A | ||
| ENST00000423048.5:c.4695C>A | ENSP00000399833.1:n.4695C>A | |
| ENST00000484298.5:c.11078C>A | ENSP00000478155.1:p.Ser3693Ter | |
| ENST00000613296.4:c.11204C>A | ENSP00000482968.1:p.Ser3735Ter | |
| ENST00000614410.4:c.11204C>A | ENSP00000479094.1:p.Ser3735Ter | |
| ENST00000620466.4:n.5007C>A | ||
| NM_015120.4:c.11207C>A , LRG_741t1:c.11207C>A | NP_055935.4:p.Ser3736Ter | |
| NM_001378454.1:c.11204C>A MANE Select | NP_001365383.1:p.Ser3735Ter |