Linked Data
ClinVar Variation Id:
204235
dbSNP Id:
rs180177314
ExAC:
9:37429729 G / A
gnomAD v2:
9-37429729-G-A
gnomAD v3:
9-37429732-G-A
gnomAD v4:
9-37429732-G-A
PubMed:
PMID:11030416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429732G>A , CM000671.2:g.37429732G>A | GRCh38 |
| NC_000009.11:g.37429729G>A , CM000671.1:g.37429729G>A | GRCh37 |
| NC_000009.10:g.37419729G>A | NCBI36 |
| NG_008135.1:g.12023G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494G>A MANE Select | ENSP00000313432.6:p.Gly165Asp | |
| ENST00000318158.10:c.494G>A | ENSP00000313432.6:p.Gly165Asp | |
| ENST00000377824.8:n.531G>A | ||
| ENST00000460882.5:n.521G>A | ||
| ENST00000480596.5:n.1195G>A | ||
| ENST00000491488.5:n.199G>A | ||
| ENST00000494290.1:c.65G>A | ENSP00000432021.1:p.Gly22Asp | |
| ENST00000497693.1:n.2027G>A | ||
| ENST00000607784.1:c.494G>A | ENSP00000475569.1:p.Gly165Asp | |
| NM_012203.1:c.494G>A | NP_036335.1:p.Gly165Asp | |
| XM_005251631.1:c.173G>A | XP_005251688.1:p.Gly58Asp | |
| XM_011518073.1:c.92G>A | XP_011516375.1:p.Gly31Asp | |
| XR_929374.1:n.939G>A | ||
| XM_017015320.2:c.494G>A | XP_016870809.1:p.Gly165Asp | |
| XM_017015321.2:c.494G>A | XP_016870810.1:p.Gly165Asp | |
| XM_017015323.2:c.92G>A | XP_016870812.1:p.Gly31Asp | |
| XM_024447716.1:c.767G>A | XP_024303484.1:p.Gly256Asp | |
| XM_024447717.1:c.767G>A | XP_024303485.1:p.Gly256Asp | |
| XR_002956828.1:n.782G>A | ||
| XR_002956829.1:n.782G>A | ||
| XR_002956830.1:n.553G>A | ||
| XR_002956831.1:n.228G>A | ||
| XR_002956832.1:n.913G>A | ||
| NM_012203.2:c.494G>A MANE Select | NP_036335.1:p.Gly165Asp |