Linked Data
ClinVar Variation Id:
497840
dbSNP Id:
rs1209782193
gnomAD v3:
X-154380776-T-G
gnomAD v4:
X-154380776-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380776T>G , CM000685.2:g.154380776T>G | GRCh38 |
| NC_000023.10:g.153609136T>G , CM000685.1:g.153609136T>G | GRCh37 |
| NC_000023.9:g.153262330T>G | NCBI36 |
| NG_008677.1:g.11341T>G , LRG_745:g.11341T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.423T>G | ENSP00000507245.1:p.Ser141= | |
| ENST00000682478.1:n.613T>G | ||
| ENST00000683576.1:n.613T>G | ||
| ENST00000683627.1:c.423T>G | ENSP00000507533.1:p.Ser141= | |
| ENST00000684082.1:c.380T>G | ENSP00000508266.1:n.380T>G | |
| ENST00000684633.1:n.395T>G | ||
| ENST00000684678.1:c.419T>G | ENSP00000507059.1:n.419T>G | |
| ENST00000369842.9:c.423T>G MANE Select | ENSP00000358857.4:p.Ser141= | |
| ENST00000369835.3:c.318T>G | ENSP00000358850.3:p.Ser106= | |
| ENST00000369842.8:c.423T>G | ENSP00000358857.4:p.Ser141= | |
| ENST00000428228.5:c.*328T>G | ENSP00000401081.1:n.*328T>G | |
| ENST00000468294.5:n.383T>G | ||
| ENST00000471965.1:n.212T>G | ||
| ENST00000485261.1:n.613T>G | ||
| ENST00000486738.5:n.781T>G | ||
| ENST00000492448.1:n.406T>G | ||
| NM_000117.2:c.423T>G , LRG_745t1:c.423T>G | NP_000108.1:p.Ser141= | |
| XM_024452349.1:c.429T>G | XP_024308117.1:p.Ser143= | |
| NM_000117.3:c.423T>G MANE Select | NP_000108.1:p.Ser141= |