Linked Data
ClinVar Variation Id:
1197890
ClinVar RCV Id:
RCV001561868
dbSNP Id:
rs1377763374
gnomAD v2:
2-73718547-C-G
gnomAD v3:
2-73491420-C-G
gnomAD v4:
2-73491420-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73491420C>G , CM000664.2:g.73491420C>G | GRCh38 |
| NC_000002.11:g.73718547C>G , CM000664.1:g.73718547C>G | GRCh37 |
| NC_000002.10:g.73572055C>G | NCBI36 |
| NG_011690.1:g.110668C>G , LRG_741:g.110668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9080C>G | ENSP00000507671.1:p.Thr3027Ser | |
| ENST00000682801.1:c.9080C>G | ENSP00000507862.1:p.Thr3027Ser | |
| ENST00000682859.1:c.9080C>G | ENSP00000508222.1:p.Thr3027Ser | |
| ENST00000683791.1:c.2472C>G | ||
| ENST00000684460.1:c.6532C>G | ||
| ENST00000684548.1:c.9080C>G | ENSP00000507421.1:p.Thr3027Ser | |
| ENST00000684590.1:c.3527C>G | ENSP00000507376.1:p.Thr1176Ser | |
| ENST00000684656.1:c.6532C>G | ||
| ENST00000613296.6:c.9461C>G MANE Select | ENSP00000482968.1:p.Thr3154Ser | |
| ENST00000651434.1:c.896-28355C>G | ||
| ENST00000652487.1:c.558C>G | ||
| ENST00000423048.5:c.3030+1262C>G | ENSP00000399833.1:n.3030+1262C>G | |
| ENST00000484298.5:c.9335C>G | ENSP00000478155.1:p.Thr3112Ser | |
| ENST00000613296.4:c.9461C>G | ENSP00000482968.1:p.Thr3154Ser | |
| ENST00000614410.4:c.9461C>G | ENSP00000479094.1:p.Thr3154Ser | |
| ENST00000620466.4:n.3264C>G | ||
| NM_015120.4:c.9464C>G , LRG_741t1:c.9464C>G | NP_055935.4:p.Thr3155Ser | |
| NM_001378454.1:c.9461C>G MANE Select | NP_001365383.1:p.Thr3154Ser |