Linked Data
dbSNP Id:
rs982693559
gnomAD v2:
10-124265996-C-G
gnomAD v3:
10-122506480-C-G
gnomAD v4:
10-122506480-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506480C>G , CM000672.2:g.122506480C>G | GRCh38 |
| NC_000010.10:g.124265996C>G , CM000672.1:g.124265996C>G | GRCh37 |
| NC_000010.9:g.124255986C>G | NCBI36 |
| NG_011554.1:g.49956C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.778-211C>G MANE Select | ENSP00000357980.3:n.778-211C>G | |
| ENST00000648167.1:c.460-211C>G | ENSP00000498033.1:n.460-211C>G | |
| ENST00000368984.7:c.778-211C>G | ENSP00000357980.3:n.778-211C>G | |
| NM_002775.4:c.778-211C>G | NP_002766.1:n.778-211C>G | |
| NM_002775.5:c.778-211C>G MANE Select | NP_002766.1:n.778-211C>G |