Linked Data
dbSNP Id:
rs1554952446
gnomAD v2:
10-119022575-C-G
gnomAD v3:
10-117263064-C-G
gnomAD v4:
10-117263064-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117263064C>G , CM000672.2:g.117263064C>G | GRCh38 |
| NC_000010.10:g.119022575C>G , CM000672.1:g.119022575C>G | GRCh37 |
| NC_000010.9:g.119012565C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644641.2:c.992-3669C>G MANE Select | ENSP00000496339.1:n.992-3669C>G | |
| ENST00000298472.9:c.992-3669C>G | ENSP00000298472.5:n.992-3669C>G | |
| ENST00000497497.1:n.1408-3669C>G | ||
| NM_003054.4:c.992-3669C>G | NP_003045.2:n.992-3669C>G | |
| NM_003054.5:c.992-3669C>G | NP_003045.2:n.992-3669C>G | |
| NM_003054.6:c.992-3669C>G MANE Select | NP_003045.2:n.992-3669C>G |