Linked Data
ClinVar Variation Id:
1584881
ClinVar RCV Id:
RCV002102916
dbSNP Id:
rs747375365
ExAC:
9:93983074 T / C
gnomAD v2:
9-93983074-T-C
gnomAD v3:
9-91220792-T-C
gnomAD v4:
9-91220792-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91220792T>C , CM000671.2:g.91220792T>C | GRCh38 |
| NC_000009.11:g.93983074T>C , CM000671.1:g.93983074T>C | GRCh37 |
| NC_000009.10:g.93022895T>C | NCBI36 |
| NG_008017.1:g.146133A>G , LRG_449:g.146133A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.843+13A>G MANE Select | ENSP00000364883.5:n.843+13A>G | |
| ENST00000303617.5:c.756+13A>G | ENSP00000307334.5:n.756+13A>G | |
| ENST00000375731.8:c.843+13A>G | ENSP00000364883.4:n.843+13A>G | |
| ENST00000473695.1:n.115+13A>G | ||
| NM_001306190.1:c.756+13A>G | NP_001293119.1:n.756+13A>G | |
| NM_001698.2:c.843+13A>G , LRG_449t1:c.843+13A>G | NP_001689.1:n.843+13A>G | |
| XM_005252066.2:c.873+13A>G | XP_005252123.1:n.873+13A>G | |
| XM_005252067.3:c.873+13A>G | XP_005252124.1:n.873+13A>G | |
| XM_005252069.3:c.873+13A>G | XP_005252126.1:n.873+13A>G | |
| XM_005252073.2:c.381+13A>G | XP_005252130.1:n.381+13A>G | |
| XM_006717150.2:c.786+13A>G | XP_006717213.1:n.786+13A>G | |
| XM_011518801.1:c.519+13A>G | XP_011517103.1:n.519+13A>G | |
| XM_011518802.1:c.516+13A>G | XP_011517104.1:n.516+13A>G | |
| NM_001351431.1:c.516+13A>G | NP_001338360.1:n.516+13A>G | |
| NM_001351432.1:c.516+13A>G | NP_001338361.1:n.516+13A>G | |
| NM_001351433.1:c.516+13A>G | NP_001338362.1:n.516+13A>G | |
| XM_005252066.3:c.873+13A>G | XP_005252123.1:n.873+13A>G | |
| XM_005252067.4:c.873+13A>G | XP_005252124.1:n.873+13A>G | |
| XM_005252069.4:c.873+13A>G | XP_005252126.1:n.873+13A>G | |
| XM_006717150.3:c.786+13A>G | XP_006717213.1:n.786+13A>G | |
| XM_017014849.1:c.843+13A>G | XP_016870338.1:n.843+13A>G | |
| XR_001746328.2:n.1068+13A>G | ||
| XR_001746329.2:n.1020+13A>G | ||
| NM_001698.3:c.843+13A>G MANE Select | NP_001689.1:n.843+13A>G | |
| NM_001306190.2:c.756+13A>G | NP_001293119.1:n.756+13A>G | |
| NM_001351431.2:c.516+13A>G | NP_001338360.1:n.516+13A>G | |
| NM_001351432.2:c.516+13A>G | NP_001338361.1:n.516+13A>G | |
| NM_001351433.2:c.516+13A>G | NP_001338362.1:n.516+13A>G |