Linked Data
ClinVar Variation Id:
2523896
ClinVar RCV Id:
RCV003289863
dbSNP Id:
rs377374419
ExAC:
9:37429761 G / A
gnomAD v2:
9-37429761-G-A
gnomAD v3:
9-37429764-G-A
gnomAD v4:
9-37429764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429764G>A , CM000671.2:g.37429764G>A | GRCh38 |
| NC_000009.11:g.37429761G>A , CM000671.1:g.37429761G>A | GRCh37 |
| NC_000009.10:g.37419761G>A | NCBI36 |
| NG_008135.1:g.12055G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.526G>A MANE Select | ENSP00000313432.6:p.Gly176Ser | |
| ENST00000318158.10:c.526G>A | ENSP00000313432.6:p.Gly176Ser | |
| ENST00000377824.8:n.563G>A | ||
| ENST00000460882.5:n.553G>A | ||
| ENST00000480596.5:n.1227G>A | ||
| ENST00000491488.5:n.231G>A | ||
| ENST00000494290.1:c.97G>A | ENSP00000432021.1:p.Gly33Ser | |
| ENST00000497693.1:n.2059G>A | ||
| ENST00000607784.1:c.526G>A | ENSP00000475569.1:p.Gly176Ser | |
| NM_012203.1:c.526G>A | NP_036335.1:p.Gly176Ser | |
| XM_005251631.1:c.205G>A | XP_005251688.1:p.Gly69Ser | |
| XM_011518073.1:c.124G>A | XP_011516375.1:p.Gly42Ser | |
| XR_929374.1:n.971G>A | ||
| XM_017015320.2:c.526G>A | XP_016870809.1:p.Gly176Ser | |
| XM_017015321.2:c.526G>A | XP_016870810.1:p.Gly176Ser | |
| XM_017015323.2:c.124G>A | XP_016870812.1:p.Gly42Ser | |
| XM_024447716.1:c.799G>A | XP_024303484.1:p.Gly267Ser | |
| XM_024447717.1:c.799G>A | XP_024303485.1:p.Gly267Ser | |
| XR_002956828.1:n.814G>A | ||
| XR_002956829.1:n.814G>A | ||
| XR_002956830.1:n.585G>A | ||
| XR_002956831.1:n.260G>A | ||
| XR_002956832.1:n.945G>A | ||
| NM_012203.2:c.526G>A MANE Select | NP_036335.1:p.Gly176Ser |