Linked Data
dbSNP Id:
rs2032369127
gnomAD v3:
10-94989056-G-A
gnomAD v4:
10-94989056-G-A
COSMIC:
COSN5293932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989056G>A , CM000672.2:g.94989056G>A | GRCh38 |
| NC_000010.10:g.96748813G>A , CM000672.1:g.96748813G>A | GRCh37 |
| NC_000010.9:g.96738803G>A | NCBI36 |
| NG_008385.1:g.55399G>A | |
| NG_008385.2:g.55899G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.*28G>A MANE Select | ENSP00000260682.6:n.*28G>A | |
| ENST00000643112.1:c.*510G>A | ENSP00000496202.1:n.*510G>A | |
| ENST00000260682.6:c.*28G>A | ENSP00000260682.6:n.*28G>A | |
| NM_000771.3:c.*28G>A | NP_000762.2:n.*28G>A | |
| NM_000771.4:c.*28G>A MANE Select | NP_000762.2:n.*28G>A |