Linked Data
dbSNP Id:
rs765356115
ExAC:
8:102555693 C / G
gnomAD v2:
8-102555693-C-G
gnomAD v4:
8-101543465-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101543465C>G , CM000670.2:g.101543465C>G | GRCh38 |
| NC_000008.10:g.102555693C>G , CM000670.1:g.102555693C>G | GRCh37 |
| NC_000008.9:g.102624869C>G | NCBI36 |
| NG_011971.1:g.56026C>G | |
| NG_011971.2:g.56026C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.216+29C>G MANE Select | ENSP00000495564.1:n.216+29C>G | |
| ENST00000251808.7:c.216+29C>G | ENSP00000251808.3:n.216+29C>G | |
| ENST00000395927.1:c.168+29C>G | ENSP00000379260.1:n.168+29C>G | |
| ENST00000472106.2:n.573C>G | ||
| NM_024915.3:c.216+29C>G | NP_079191.2:n.216+29C>G | |
| XM_011517305.1:c.168+29C>G | XP_011515607.1:n.168+29C>G | |
| XM_011517306.1:c.168+29C>G | XP_011515608.1:n.168+29C>G | |
| XM_011517307.1:c.216+29C>G | XP_011515609.1:n.216+29C>G | |
| NM_001330593.1:c.168+29C>G | NP_001317522.1:n.168+29C>G | |
| XM_011517306.3:c.168+29C>G | XP_011515608.1:n.168+29C>G | |
| XM_011517307.3:c.216+29C>G | XP_011515609.1:n.216+29C>G | |
| NM_001330593.2:c.168+29C>G | NP_001317522.1:n.168+29C>G | |
| NM_024915.4:c.216+29C>G MANE Select | NP_079191.2:n.216+29C>G |