Linked Data
ClinVar Variation Id:
229054
dbSNP Id:
rs539665448
ExAC:
1:78401671 C / G
gnomAD v2:
1-78401671-C-G
gnomAD v3:
1-77935986-C-G
gnomAD v4:
1-77935986-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935986C>G , CM000663.2:g.77935986C>G | GRCh38 |
| NC_000001.10:g.78401671C>G , CM000663.1:g.78401671C>G | GRCh37 |
| NC_000001.9:g.78174259C>G | NCBI36 |
| NG_016625.1:g.52472C>G , LRG_442:g.52472C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1415C>G MANE Select | ENSP00000333938.7:p.Ala472Gly | |
| ENST00000330010.12:c.1223C>G | ENSP00000327363.8:p.Ala408Gly | |
| ENST00000334785.11:c.1415C>G | ENSP00000333938.7:p.Ala472Gly | |
| ENST00000342754.5:c.1114C>G | ||
| ENST00000480732.2:n.989C>G | ||
| NM_001172309.1:c.1223C>G | NP_001165780.1:p.Ala408Gly | |
| NM_144573.3:c.1415C>G , LRG_442t1:c.1415C>G | NP_653174.3:p.Ala472Gly | |
| XM_005271322.2:c.1415C>G | XP_005271379.1:p.Ala472Gly | |
| XM_005271323.2:c.1373C>G | XP_005271380.1:p.Ala458Gly | |
| XM_005271324.3:c.1223C>G | XP_005271381.1:p.Ala408Gly | |
| XM_005271325.2:c.1251+2507C>G | XP_005271382.1:n.1251+2507C>G | |
| XM_005271326.2:c.1181C>G | XP_005271383.1:p.Ala394Gly | |
| XM_005271327.2:c.998C>G | XP_005271384.1:p.Ala333Gly | |
| XM_005271322.4:c.1415C>G | XP_005271379.1:p.Ala472Gly | |
| XM_005271323.4:c.1373C>G | XP_005271380.1:p.Ala458Gly | |
| XM_005271324.5:c.1223C>G | XP_005271381.1:p.Ala408Gly | |
| XM_005271325.4:c.1251+2507C>G | XP_005271382.1:n.1251+2507C>G | |
| XM_005271326.4:c.1181C>G | XP_005271383.1:p.Ala394Gly | |
| XM_005271327.4:c.998C>G | XP_005271384.1:p.Ala333Gly | |
| NM_001172309.2:c.1223C>G | NP_001165780.1:p.Ala408Gly | |
| NM_144573.4:c.1415C>G MANE Select | NP_653174.3:p.Ala472Gly |