Linked Data
ClinVar Variation Id:
264657
dbSNP Id:
rs769219669
ExAC:
2:73677553 C / A
gnomAD v2:
2-73677553-C-A
gnomAD v4:
2-73450426-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450426C>A , CM000664.2:g.73450426C>A | GRCh38 |
| NC_000002.11:g.73677553C>A , CM000664.1:g.73677553C>A | GRCh37 |
| NC_000002.10:g.73531061C>A | NCBI36 |
| NG_011690.1:g.69674C>A , LRG_741:g.69674C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3518C>A | ENSP00000507671.1:p.Ser1173Ter | |
| ENST00000682801.1:c.3518C>A | ENSP00000507862.1:p.Ser1173Ter | |
| ENST00000682859.1:c.3518C>A | ENSP00000508222.1:p.Ser1173Ter | |
| ENST00000683791.1:c.685+18135C>A | ||
| ENST00000684460.1:c.970C>A | ||
| ENST00000684548.1:c.3518C>A | ENSP00000507421.1:p.Ser1173Ter | |
| ENST00000684656.1:c.970C>A | ||
| ENST00000613296.6:c.3899C>A MANE Select | ENSP00000482968.1:p.Ser1300Ter | |
| ENST00000484298.5:c.3773C>A | ENSP00000478155.1:p.Ser1258Ter | |
| ENST00000613296.4:c.3899C>A | ENSP00000482968.1:p.Ser1300Ter | |
| ENST00000614410.4:c.3899C>A | ENSP00000479094.1:p.Ser1300Ter | |
| NM_015120.4:c.3902C>A , LRG_741t1:c.3902C>A | NP_055935.4:p.Ser1301Ter | |
| NM_001378454.1:c.3899C>A MANE Select | NP_001365383.1:p.Ser1300Ter |