Linked Data
ClinVar Variation Id:
2671864
ClinVar RCV Id:
RCV003448963
dbSNP Id:
rs369698939
gnomAD v2:
9-37432076-A-G
gnomAD v3:
9-37432079-A-G
gnomAD v4:
9-37432079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432079A>G , CM000671.2:g.37432079A>G | GRCh38 |
| NC_000009.11:g.37432076A>G , CM000671.1:g.37432076A>G | GRCh37 |
| NC_000009.10:g.37422076A>G | NCBI36 |
| NG_008135.1:g.14370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.806A>G MANE Select | ENSP00000313432.6:p.Asp269Gly | |
| ENST00000318158.10:c.806A>G | ENSP00000313432.6:p.Asp269Gly | |
| ENST00000460882.5:n.833A>G | ||
| ENST00000480596.5:n.1507A>G | ||
| ENST00000482603.1:n.259A>G | ||
| ENST00000491488.5:n.511A>G | ||
| ENST00000494290.1:c.*51+928A>G | ENSP00000432021.1:n.*51+928A>G | |
| ENST00000497693.1:n.4374A>G | ||
| ENST00000607784.1:c.806A>G | ENSP00000475569.1:p.Asp269Gly | |
| NM_012203.1:c.806A>G | NP_036335.1:p.Asp269Gly | |
| XM_005251631.1:c.485A>G | XP_005251688.1:p.Asp162Gly | |
| XM_011518073.1:c.404A>G | XP_011516375.1:p.Asp135Gly | |
| XM_017015320.2:c.806A>G | XP_016870809.1:p.Asp269Gly | |
| XM_017015321.2:c.806A>G | XP_016870810.1:p.Asp269Gly | |
| XM_017015323.2:c.404A>G | XP_016870812.1:p.Asp135Gly | |
| XM_024447716.1:c.1079A>G | XP_024303484.1:p.Asp360Gly | |
| XM_024447717.1:c.1079A>G | XP_024303485.1:p.Asp360Gly | |
| XR_002956828.1:n.1094A>G | ||
| XR_002956829.1:n.1094A>G | ||
| XR_002956830.1:n.2226A>G | ||
| XR_002956831.1:n.1901A>G | ||
| XR_002956832.1:n.1225A>G | ||
| NM_012203.2:c.806A>G MANE Select | NP_036335.1:p.Asp269Gly |