Linked Data
dbSNP Id:
rs1164808348
gnomAD v2:
17-19463363-G-A
gnomAD v3:
17-19560050-G-A
gnomAD v4:
17-19560050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19560050G>A , CM000679.2:g.19560050G>A | GRCh38 |
| NC_000017.10:g.19463363G>A , CM000679.1:g.19463363G>A | GRCh37 |
| NC_000017.9:g.19403955G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270570.8:c.922-138G>A MANE Select | ENSP00000270570.4:n.922-138G>A | |
| ENST00000395585.5:c.922-138G>A | ENSP00000378951.1:n.922-138G>A | |
| ENST00000436810.6:c.853-138G>A | ENSP00000407155.2:n.853-138G>A | |
| ENST00000495425.6:n.365-138G>A | ||
| ENST00000497548.5:n.1068+3988G>A | ||
| ENST00000571335.5:c.337-138G>A | ENSP00000462630.1:n.337-138G>A | |
| ENST00000573009.1:n.232-120G>A | ||
| ENST00000575023.5:c.498+10373G>A | ENSP00000460164.1:n.498+10373G>A | |
| ENST00000575377.5:n.187-138G>A | ||
| NM_018242.2:c.922-138G>A | NP_060712.2:n.922-138G>A | |
| NM_018242.3:c.922-138G>A MANE Select | NP_060712.2:n.922-138G>A |