Linked Data
dbSNP Id:
rs1057518745
gnomAD v2:
22-17578719-C-G
gnomAD v3:
22-17097829-C-G
gnomAD v4:
22-17097829-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17097829C>G , CM000684.2:g.17097829C>G | GRCh38 |
| NC_000022.10:g.17578719C>G , CM000684.1:g.17578719C>G | GRCh37 |
| NC_000022.9:g.15958719C>G | NCBI36 |
| NG_028257.1:g.17869C>G , LRG_355:g.17869C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612619.2:c.196C>G | ENSP00000479970.1:p.Arg66Gly | |
| ENST00000694948.1:n.294C>G | ||
| ENST00000694949.1:n.291C>G | ||
| ENST00000694950.1:c.244-27C>G | ||
| ENST00000694951.1:n.59C>G | ||
| ENST00000319363.11:c.196C>G MANE Select | ENSP00000320936.6:p.Arg66Gly | |
| ENST00000319363.10:c.196C>G | ENSP00000320936.6:p.Arg66Gly | |
| ENST00000477874.1:n.309C>G | ||
| ENST00000612619.1:c.196C>G | ENSP00000479970.1:p.Arg66Gly | |
| NM_001289905.1:c.196C>G | NP_001276834.1:p.Arg66Gly | |
| NM_014339.6:c.196C>G , LRG_355t1:c.196C>G | NP_055154.3:p.Arg66Gly | |
| NM_014339.7:c.196C>G MANE Select | NP_055154.3:p.Arg66Gly | |
| NM_001289905.2:c.196C>G | NP_001276834.1:p.Arg66Gly |