Linked Data
dbSNP Id:
rs767176569
ExAC:
8:6735296 C / A
gnomAD v2:
8-6735296-C-A
gnomAD v4:
8-6877774-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877774C>A , CM000670.2:g.6877774C>A | GRCh38 |
| NC_000008.10:g.6735296C>A , CM000670.1:g.6735296C>A | GRCh37 |
| NC_000008.9:g.6722706C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297439.4:c.61+23G>T MANE Select | ENSP00000297439.3:n.61+23G>T | |
| ENST00000297439.3:c.61+23G>T | ENSP00000297439.3:n.61+23G>T | |
| NM_005218.3:c.61+23G>T | NP_005209.1:n.61+23G>T | |
| NM_005218.4:c.61+23G>T MANE Select | NP_005209.1:n.61+23G>T |