Linked Data
dbSNP Id:
rs1008868812
gnomAD v2:
1-55518753-G-A
gnomAD v3:
1-55053080-G-A
gnomAD v4:
1-55053080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55053080G>A , CM000663.2:g.55053080G>A | GRCh38 |
| NC_000001.10:g.55518753G>A , CM000663.1:g.55518753G>A | GRCh37 |
| NC_000001.9:g.55291341G>A | NCBI36 |
| NG_009061.1:g.18534G>A , LRG_275:g.18534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.799+289G>A | ENSP00000501161.2:n.799+289G>A | |
| ENST00000710286.1:c.1156+289G>A | ENSP00000518176.1:n.1156+289G>A | |
| ENST00000673903.1:c.424+289G>A | ENSP00000501257.1:n.424+289G>A | |
| ENST00000302118.5:c.799+289G>A MANE Select | ENSP00000303208.5:n.799+289G>A | |
| ENST00000490692.1:n.1620+289G>A | ||
| NM_174936.3:c.799+289G>A , LRG_275t1:c.799+289G>A | NP_777596.2:n.799+289G>A | |
| NR_110451.1:n.458+289G>A | ||
| NM_174936.4:c.799+289G>A MANE Select | NP_777596.2:n.799+289G>A | |
| NR_110451.2:n.458+289G>A |