Linked Data
ClinVar Variation Id:
229056
dbSNP Id:
rs876657929
gnomAD v3:
1-77942782-G-A
gnomAD v4:
1-77942782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942782G>A , CM000663.2:g.77942782G>A | GRCh38 |
| NC_000001.10:g.78408467G>A , CM000663.1:g.78408467G>A | GRCh37 |
| NC_000001.9:g.78181055G>A | NCBI36 |
| NG_016625.1:g.59268G>A , LRG_442:g.59268G>A | |
| NG_033243.2:g.41312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1981G>A MANE Select | ENSP00000333938.7:p.Gly661Arg | |
| ENST00000330010.12:c.1789G>A | ENSP00000327363.8:p.Gly597Arg | |
| ENST00000334785.11:c.1981G>A | ENSP00000333938.7:p.Gly661Arg | |
| ENST00000342754.5:c.1680G>A | ||
| ENST00000480732.2:n.1555G>A | ||
| NM_001172309.1:c.1789G>A | NP_001165780.1:p.Gly597Arg | |
| NM_144573.3:c.1981G>A , LRG_442t1:c.1981G>A | NP_653174.3:p.Gly661Arg | |
| XM_005271322.2:c.1981G>A | XP_005271379.1:p.Gly661Arg | |
| XM_005271323.2:c.1939G>A | XP_005271380.1:p.Gly647Arg | |
| XM_005271324.3:c.1789G>A | XP_005271381.1:p.Gly597Arg | |
| XM_005271325.2:c.1759G>A | XP_005271382.1:p.Gly587Arg | |
| XM_005271326.2:c.1747G>A | XP_005271383.1:p.Gly583Arg | |
| XM_005271327.2:c.1564G>A | XP_005271384.1:p.Gly522Arg | |
| XM_005271322.4:c.1981G>A | XP_005271379.1:p.Gly661Arg | |
| XM_005271323.4:c.1939G>A | XP_005271380.1:p.Gly647Arg | |
| XM_005271324.5:c.1789G>A | XP_005271381.1:p.Gly597Arg | |
| XM_005271325.4:c.1759G>A | XP_005271382.1:p.Gly587Arg | |
| XM_005271326.4:c.1747G>A | XP_005271383.1:p.Gly583Arg | |
| XM_005271327.4:c.1564G>A | XP_005271384.1:p.Gly522Arg | |
| NM_001172309.2:c.1789G>A | NP_001165780.1:p.Gly597Arg | |
| NM_144573.4:c.1981G>A MANE Select | NP_653174.3:p.Gly661Arg |