Linked Data
ClinVar Variation Id:
240958
dbSNP Id:
rs76519832
ExAC:
1:10412800 A / G
gnomAD v2:
1-10412800-A-G
gnomAD v3:
1-10352742-A-G
gnomAD v4:
1-10352742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10352742A>G , CM000663.2:g.10352742A>G | GRCh38 |
| NC_000001.10:g.10412800A>G , CM000663.1:g.10412800A>G | GRCh37 |
| NC_000001.9:g.10335387A>G | NCBI36 |
| NG_008069.1:g.147037A>G , LRG_252:g.147037A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4118+6A>G | ENSP00000512668.1:n.4118+6A>G | |
| ENST00000696503.1:c.3980+6A>G | ENSP00000512669.1:n.3980+6A>G | |
| ENST00000696504.1:c.3980+6A>G | ENSP00000512670.1:n.3980+6A>G | |
| ENST00000676179.1:c.4055+6A>G MANE Select | ENSP00000502065.1:n.4055+6A>G | |
| ENST00000263934.10:c.3917+6A>G | ENSP00000263934.6:n.3917+6A>G | |
| ENST00000377081.5:c.4055+6A>G | ENSP00000366284.1:n.4055+6A>G | |
| ENST00000377086.5:c.4055+6A>G | ENSP00000366290.1:n.4055+6A>G | |
| ENST00000465635.5:n.510+6A>G | ||
| ENST00000483340.1:n.591+6A>G | ||
| ENST00000620295.2:c.4013+6A>G | ENSP00000478500.1:n.4013+6A>G | |
| ENST00000622724.3:c.3977+6A>G | ENSP00000480063.1:n.3977+6A>G | |
| ENST00000635499.1:c.73+6A>G | ||
| NM_015074.3:c.3917+6A>G , LRG_252t1:c.3917+6A>G | NP_055889.2:n.3917+6A>G | |
| NM_001365951.1:c.4055+6A>G | NP_001352880.1:n.4055+6A>G | |
| NM_001365952.1:c.4055+6A>G | NP_001352881.1:n.4055+6A>G | |
| NM_001365951.3:c.4055+6A>G MANE Select | NP_001352880.1:n.4055+6A>G |