Linked Data
ClinVar Variation Id:
387350
dbSNP Id:
rs139647347
ExAC:
2:73828026 G / A
gnomAD v2:
2-73828026-G-A
gnomAD v3:
2-73600899-G-A
gnomAD v4:
2-73600899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73600899G>A , CM000664.2:g.73600899G>A | GRCh38 |
| NC_000002.11:g.73828026G>A , CM000664.1:g.73828026G>A | GRCh37 |
| NC_000002.10:g.73681534G>A | NCBI36 |
| NG_011690.1:g.220147G>A , LRG_741:g.220147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11491+18G>A | ENSP00000507671.1:n.11491+18G>A | |
| ENST00000682801.1:c.11167-1286G>A | ENSP00000507862.1:n.11167-1286G>A | |
| ENST00000682859.1:c.11491+18G>A | ENSP00000508222.1:n.11491+18G>A | |
| ENST00000683791.1:c.4577+18G>A | ||
| ENST00000684460.1:c.8772+18G>A | ||
| ENST00000684548.1:c.11491+18G>A | ENSP00000507421.1:n.11491+18G>A | |
| ENST00000684590.1:c.5938+18G>A | ENSP00000507376.1:n.5938+18G>A | |
| ENST00000684656.1:c.8956+18G>A | ||
| ENST00000613296.6:c.11872+18G>A MANE Select | ENSP00000482968.1:n.11872+18G>A | |
| ENST00000651057.1:c.2026+18G>A | ENSP00000498504.1:n.2026+18G>A | |
| ENST00000651434.1:c.3228+18G>A | ||
| ENST00000651750.1:c.1260+18G>A | ||
| ENST00000652487.1:c.3043+18G>A | ||
| ENST00000464408.3:n.47+18G>A | ||
| ENST00000484298.5:c.11746+18G>A | ENSP00000478155.1:n.11746+18G>A | |
| ENST00000613296.4:c.11872+18G>A | ENSP00000482968.1:n.11872+18G>A | |
| ENST00000620466.4:n.5675+18G>A | ||
| NM_015120.4:c.11875+18G>A , LRG_741t1:c.11875+18G>A | NP_055935.4:n.11875+18G>A | |
| NM_001378454.1:c.11872+18G>A MANE Select | NP_001365383.1:n.11872+18G>A |