Linked Data
ClinVar Variation Id:
505422
dbSNP Id:
rs200612600
ExAC:
11:2608792 G / A
gnomAD v2:
11-2608792-G-A
gnomAD v3:
11-2587562-G-A
gnomAD v4:
11-2587562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587562G>A , CM000673.2:g.2587562G>A | GRCh38 |
| NC_000011.9:g.2608792G>A , CM000673.1:g.2608792G>A | GRCh37 |
| NC_000011.8:g.2565368G>A | NCBI36 |
| NG_008935.1:g.147572G>A , LRG_287:g.147572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.772-8G>A | ENSP00000434560.2:n.772-8G>A | |
| ENST00000646564.2:c.589-8G>A | ENSP00000495806.2:n.589-8G>A | |
| ENST00000155840.12:c.1129-8G>A MANE Select | ENSP00000155840.2:n.1129-8G>A | |
| ENST00000335475.6:c.748-8G>A | ENSP00000334497.5:n.748-8G>A | |
| ENST00000646564.1:c.235-8G>A | ENSP00000495806.1:n.235-8G>A | |
| ENST00000155840.9:c.1129-8G>A | ENSP00000155840.2:n.1129-8G>A | |
| ENST00000335475.5:c.748-8G>A | ENSP00000334497.5:n.748-8G>A | |
| NM_000218.2:c.1129-8G>A , LRG_287t1:c.1129-8G>A | NP_000209.2:n.1129-8G>A | |
| NM_181798.1:c.748-8G>A , LRG_287t2:c.748-8G>A | NP_861463.1:n.748-8G>A | |
| NM_000218.3:c.1129-8G>A MANE Select | NP_000209.2:n.1129-8G>A |