Linked Data
ClinVar Variation Id:
1667173
ClinVar RCV Id:
RCV002188804
dbSNP Id:
rs2123286647
gnomAD v4:
19-45363926-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363926T>C , CM000681.2:g.45363926T>C | GRCh38 |
| NC_000019.9:g.45867184T>C , CM000681.1:g.45867184T>C | GRCh37 |
| NC_000019.8:g.50559024T>C | NCBI36 |
| NG_007067.2:g.11662A>G , LRG_461:g.11662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.950-15A>G | ENSP00000375808.4:n.950-15A>G | |
| ENST00000682414.1:c.950-15A>G | ENSP00000507019.1:n.950-15A>G | |
| ENST00000682508.1:n.979-15A>G | ||
| ENST00000684218.1:c.*208-15A>G | ENSP00000507804.1:n.*208-15A>G | |
| ENST00000684407.1:c.827-15A>G | ENSP00000507775.1:n.827-15A>G | |
| ENST00000684458.1:c.950-15A>G | ENSP00000508260.1:n.950-15A>G | |
| ENST00000391945.10:c.950-15A>G MANE Select | ENSP00000375809.4:n.950-15A>G | |
| ENST00000587376.6:c.73-15A>G | ||
| ENST00000646507.1:n.1047-15A>G | ||
| ENST00000391941.6:c.878-15A>G | ENSP00000375805.2:n.878-15A>G | |
| ENST00000391944.7:c.716-15A>G | ENSP00000375808.3:n.716-15A>G | |
| ENST00000391945.8:c.950-15A>G | ENSP00000375809.3:n.950-15A>G | |
| ENST00000485403.6:c.878-15A>G | ENSP00000431229.2:n.878-15A>G | |
| ENST00000587376.5:c.73-15A>G | ||
| NM_000400.3:c.950-15A>G , LRG_461t1:c.950-15A>G | NP_000391.1:n.950-15A>G | |
| NM_001130867.1:c.878-15A>G | NP_001124339.1:n.878-15A>G | |
| XM_011526611.1:c.872-15A>G | XP_011524913.1:n.872-15A>G | |
| XR_935763.1:n.997-15A>G | ||
| XM_011526611.2:c.872-15A>G | XP_011524913.1:n.872-15A>G | |
| XM_017026467.1:c.827-15A>G | XP_016881956.1:n.827-15A>G | |
| XR_001753633.2:n.997-15A>G | ||
| XR_001753634.2:n.997-15A>G | ||
| NM_000400.4:c.950-15A>G MANE Select | NP_000391.1:n.950-15A>G | |
| NM_001130867.2:c.878-15A>G | NP_001124339.1:n.878-15A>G |