Linked Data
dbSNP Id:
rs1017810931
gnomAD v2:
11-2549083-G-A
gnomAD v3:
11-2527853-G-A
gnomAD v4:
11-2527853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527853G>A , CM000673.2:g.2527853G>A | GRCh38 |
| NC_000011.9:g.2549083G>A , CM000673.1:g.2549083G>A | GRCh37 |
| NC_000011.8:g.2505659G>A | NCBI36 |
| NG_008935.1:g.87863G>A , LRG_287:g.87863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380776.5:n.184-75G>A | ||
| ENST00000496887.7:c.126-75G>A | ENSP00000434560.2:n.126-75G>A | |
| ENST00000646564.2:c.387-75G>A | ENSP00000495806.2:n.387-75G>A | |
| ENST00000155840.12:c.387-75G>A MANE Select | ENSP00000155840.2:n.387-75G>A | |
| ENST00000335475.6:c.6-75G>A | ENSP00000334497.5:n.6-75G>A | |
| ENST00000646564.1:c.33-75G>A | ENSP00000495806.1:n.33-75G>A | |
| ENST00000155840.9:c.387-75G>A | ENSP00000155840.2:n.387-75G>A | |
| ENST00000335475.5:c.6-75G>A | ENSP00000334497.5:n.6-75G>A | |
| ENST00000345015.4:n.256-75G>A | ||
| ENST00000380776.4:c.177-75G>A | ENSP00000370153.4:n.177-75G>A | |
| ENST00000496887.6:c.126-75G>A | ENSP00000434560.1:n.126-75G>A | |
| NM_000218.2:c.387-75G>A , LRG_287t1:c.387-75G>A | NP_000209.2:n.387-75G>A | |
| NM_181798.1:c.6-75G>A , LRG_287t2:c.6-75G>A | NP_861463.1:n.6-75G>A | |
| NM_000218.3:c.387-75G>A MANE Select | NP_000209.2:n.387-75G>A |