Linked Data
ClinVar Variation Id:
2918847
ClinVar RCV Id:
RCV003739179
dbSNP Id:
rs773111875
ExAC:
9:37429709 A / G
gnomAD v2:
9-37429709-A-G
gnomAD v4:
9-37429712-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429712A>G , CM000671.2:g.37429712A>G | GRCh38 |
| NC_000009.11:g.37429709A>G , CM000671.1:g.37429709A>G | GRCh37 |
| NC_000009.10:g.37419709A>G | NCBI36 |
| NG_008135.1:g.12003A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494-20A>G MANE Select | ENSP00000313432.6:n.494-20A>G | |
| ENST00000318158.10:c.494-20A>G | ENSP00000313432.6:n.494-20A>G | |
| ENST00000377824.8:n.531-20A>G | ||
| ENST00000460882.5:n.521-20A>G | ||
| ENST00000480596.5:n.1175A>G | ||
| ENST00000491488.5:n.199-20A>G | ||
| ENST00000494290.1:c.45A>G | ENSP00000432021.1:p.Thr15= | |
| ENST00000497693.1:n.2007A>G | ||
| ENST00000607784.1:c.494-20A>G | ENSP00000475569.1:n.494-20A>G | |
| NM_012203.1:c.494-20A>G | NP_036335.1:n.494-20A>G | |
| XM_005251631.1:c.173-20A>G | XP_005251688.1:n.173-20A>G | |
| XM_011518073.1:c.92-20A>G | XP_011516375.1:n.92-20A>G | |
| XR_929374.1:n.939-20A>G | ||
| XM_017015320.2:c.494-20A>G | XP_016870809.1:n.494-20A>G | |
| XM_017015321.2:c.494-20A>G | XP_016870810.1:n.494-20A>G | |
| XM_017015323.2:c.92-20A>G | XP_016870812.1:n.92-20A>G | |
| XM_024447716.1:c.767-20A>G | XP_024303484.1:n.767-20A>G | |
| XM_024447717.1:c.767-20A>G | XP_024303485.1:n.767-20A>G | |
| XR_002956828.1:n.782-20A>G | ||
| XR_002956829.1:n.782-20A>G | ||
| XR_002956830.1:n.553-20A>G | ||
| XR_002956831.1:n.228-20A>G | ||
| XR_002956832.1:n.913-20A>G | ||
| NM_012203.2:c.494-20A>G MANE Select | NP_036335.1:n.494-20A>G |