Linked Data
ClinVar Variation Id:
542745
dbSNP Id:
rs376635652
ExAC:
9:113562858 G / A
gnomAD v2:
9-113562858-G-A
gnomAD v3:
9-110800578-G-A
gnomAD v4:
9-110800578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110800578G>A , CM000671.2:g.110800578G>A | GRCh38 |
| NC_000009.11:g.113562858G>A , CM000671.1:g.113562858G>A | GRCh37 |
| NC_000009.10:g.112602679G>A | NCBI36 |
| NG_016016.1:g.136808G>A | |
| NG_016016.2:g.136788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.2200G>A MANE Select | ENSP00000363571.4:p.Gly734Ser | |
| ENST00000189978.10:c.1942G>A | ENSP00000189978.6:p.Gly648Ser | |
| ENST00000374440.7:c.1942G>A | ENSP00000363563.4:p.Gly648Ser | |
| ENST00000374448.8:c.2200G>A | ENSP00000363571.4:p.Gly734Ser | |
| ENST00000416899.7:c.2176G>A | ENSP00000393608.3:p.Gly726Ser | |
| NM_001166280.1:c.1942G>A | NP_001159752.1:p.Gly648Ser | |
| NM_001166281.1:c.1912G>A | NP_001159753.1:p.Gly638Ser | |
| NM_005592.3:c.2200G>A | NP_005583.1:p.Gly734Ser | |
| XM_005251994.2:c.2230G>A | XP_005252051.1:p.Gly744Ser | |
| XM_005251995.2:c.2206G>A | XP_005252052.1:p.Gly736Ser | |
| XM_005251996.2:c.2176G>A | XP_005252053.1:p.Gly726Ser | |
| XM_011518707.1:c.2260G>A | XP_011517009.1:p.Gly754Ser | |
| XM_011518708.1:c.964G>A | XP_011517010.1:p.Gly322Ser | |
| XM_005251994.3:c.2230G>A | XP_005252051.1:p.Gly744Ser | |
| XM_005251995.3:c.2206G>A | XP_005252052.1:p.Gly736Ser | |
| XM_005251996.3:c.2176G>A | XP_005252053.1:p.Gly726Ser | |
| XM_011518708.2:c.964G>A | XP_011517010.1:p.Gly322Ser | |
| XM_017014734.1:c.1966G>A | XP_016870223.1:p.Gly656Ser | |
| NM_001166280.2:c.1942G>A | NP_001159752.1:p.Gly648Ser | |
| NM_001166281.2:c.1912G>A | NP_001159753.1:p.Gly638Ser | |
| NM_001369398.1:c.940G>A | NP_001356327.1:p.Gly314Ser | |
| NM_005592.4:c.2200G>A MANE Select | NP_005583.1:p.Gly734Ser |