Linked Data
ClinVar Variation Id:
138006
ClinVar RCV Id:
RCV000150872
RCV000323117
RCV000286804
RCV000376494
RCV000372585
RCV000321900
RCV002055644
dbSNP Id:
rs186188610
ExAC:
11:2799278 G / A
gnomAD v2:
11-2799278-G-A
gnomAD v3:
11-2778048-G-A
gnomAD v4:
11-2778048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778048G>A , CM000673.2:g.2778048G>A | GRCh38 |
| NC_000011.9:g.2799278G>A , CM000673.1:g.2799278G>A | GRCh37 |
| NC_000011.8:g.2755854G>A | NCBI36 |
| NG_008935.1:g.338058G>A , LRG_287:g.338058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1437+11G>A | ENSP00000434560.2:n.1437+11G>A | |
| ENST00000646564.2:c.1254+11G>A | ENSP00000495806.2:n.1254+11G>A | |
| ENST00000155840.12:c.1794+11G>A MANE Select | ENSP00000155840.2:n.1794+11G>A | |
| ENST00000335475.6:c.1413+11G>A | ENSP00000334497.5:n.1413+11G>A | |
| ENST00000526095.2:c.198+11G>A | ENSP00000494939.1:n.198+11G>A | |
| ENST00000646564.1:c.900+11G>A | ENSP00000495806.1:n.900+11G>A | |
| ENST00000155840.9:c.1794+11G>A | ENSP00000155840.2:n.1794+11G>A | |
| ENST00000335475.5:c.1413+11G>A | ENSP00000334497.5:n.1413+11G>A | |
| ENST00000526095.1:n.301+11G>A | ||
| NM_000218.2:c.1794+11G>A , LRG_287t1:c.1794+11G>A | NP_000209.2:n.1794+11G>A | |
| NM_181798.1:c.1413+11G>A , LRG_287t2:c.1413+11G>A | NP_861463.1:n.1413+11G>A | |
| NM_000218.3:c.1794+11G>A MANE Select | NP_000209.2:n.1794+11G>A |