Linked Data
dbSNP Id:
rs2853792
gnomAD v2:
7-150699877-G-A
gnomAD v3:
7-151002789-G-A
gnomAD v4:
7-151002789-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151002789G>A , CM000669.2:g.151002789G>A | GRCh38 |
| NC_000007.13:g.150699877G>A , CM000669.1:g.150699877G>A | GRCh37 |
| NC_000007.12:g.150330810G>A | NCBI36 |
| NG_011992.1:g.16731G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297494.8:c.1752+485G>A MANE Select | ENSP00000297494.3:n.1752+485G>A | |
| ENST00000297494.7:c.1752+485G>A | ENSP00000297494.3:n.1752+485G>A | |
| ENST00000460603.1:n.205-47G>A | ||
| ENST00000461406.5:c.1134+485G>A | ENSP00000417143.1:n.1134+485G>A | |
| ENST00000467517.1:c.1752+485G>A | ENSP00000420551.1:n.1752+485G>A | |
| ENST00000484524.5:c.1753-362G>A | ENSP00000420215.1:n.1753-362G>A | |
| NM_000603.4:c.1752+485G>A | NP_000594.2:n.1752+485G>A | |
| NM_001160109.1:c.1752+485G>A | NP_001153581.1:n.1752+485G>A | |
| NM_001160110.1:c.1752+485G>A | NP_001153582.1:n.1752+485G>A | |
| NM_001160111.1:c.1753-362G>A | NP_001153583.1:n.1753-362G>A | |
| XM_006716002.2:c.1752+485G>A | XP_006716065.1:n.1752+485G>A | |
| NM_000603.5:c.1752+485G>A MANE Select | NP_000594.2:n.1752+485G>A | |
| NM_001160109.2:c.1752+485G>A | NP_001153581.1:n.1752+485G>A |