Linked Data
ClinVar Variation Id:
871731
dbSNP Id:
rs767921776
ExAC:
11:2790150 G / A
gnomAD v2:
11-2790150-G-A
gnomAD v4:
11-2768920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768920G>A , CM000673.2:g.2768920G>A | GRCh38 |
| NC_000011.9:g.2790150G>A , CM000673.1:g.2790150G>A | GRCh37 |
| NC_000011.8:g.2746726G>A | NCBI36 |
| NG_008935.1:g.328930G>A , LRG_287:g.328930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1233+1G>A | ENSP00000434560.2:n.1233+1G>A | |
| ENST00000646564.2:c.1050+1G>A | ENSP00000495806.2:n.1050+1G>A | |
| ENST00000155840.12:c.1590+1G>A MANE Select | ENSP00000155840.2:n.1590+1G>A | |
| ENST00000335475.6:c.1209+1G>A | ENSP00000334497.5:n.1209+1G>A | |
| ENST00000646564.1:c.696+1G>A | ENSP00000495806.1:n.696+1G>A | |
| ENST00000155840.9:c.1590+1G>A | ENSP00000155840.2:n.1590+1G>A | |
| ENST00000335475.5:c.1209+1G>A | ENSP00000334497.5:n.1209+1G>A | |
| NM_000218.2:c.1590+1G>A , LRG_287t1:c.1590+1G>A | NP_000209.2:n.1590+1G>A | |
| NM_181798.1:c.1209+1G>A , LRG_287t2:c.1209+1G>A | NP_861463.1:n.1209+1G>A | |
| NM_000218.3:c.1590+1G>A MANE Select | NP_000209.2:n.1590+1G>A |