Linked Data
dbSNP Id:
rs528228604
gnomAD v3:
3-141080399-G-A
gnomAD v4:
3-141080399-G-A
COSMIC:
COSN1917258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.141080399G>A , CM000665.2:g.141080399G>A | GRCh38 |
| NC_000003.11:g.140799241G>A , CM000665.1:g.140799241G>A | GRCh37 |
| NC_000003.10:g.142281931G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310546.3:c.694+13601G>A MANE Select | ENSP00000311609.2:n.694+13601G>A | |
| ENST00000310546.2:c.694+13601G>A | ENSP00000311609.2:n.694+13601G>A | |
| ENST00000507895.1:n.248G>A | ||
| ENST00000508126.1:c.161+13601G>A | ||
| NM_080862.2:c.694+13601G>A | NP_543138.1:n.694+13601G>A | |
| XM_011513313.1:c.694+13601G>A | XP_011511615.1:n.694+13601G>A | |
| XR_924215.1:n.1538G>A | ||
| XR_924216.1:n.1538G>A | ||
| XM_017007509.2:c.*102G>A | XP_016862998.1:n.*102G>A | |
| XR_924215.3:n.1019G>A | ||
| XR_924216.3:n.1019G>A | ||
| NM_080862.3:c.694+13601G>A MANE Select | NP_543138.1:n.694+13601G>A |