Linked Data
ClinVar Variation Id:
1907092
ClinVar RCV Id:
RCV002577970
dbSNP Id:
rs748156467
ExAC:
9:37436659 G / A
gnomAD v2:
9-37436659-G-A
gnomAD v4:
9-37436662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436662G>A , CM000671.2:g.37436662G>A | GRCh38 |
| NC_000009.11:g.37436659G>A , CM000671.1:g.37436659G>A | GRCh37 |
| NC_000009.10:g.37426659G>A | NCBI36 |
| NG_008135.1:g.18953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.867G>A MANE Select | ENSP00000313432.6:p.Val289= | |
| ENST00000318158.10:c.867G>A | ENSP00000313432.6:p.Val289= | |
| ENST00000460882.5:n.894G>A | ||
| ENST00000480596.5:n.1568G>A | ||
| ENST00000491488.5:n.572G>A | ||
| ENST00000494290.1:c.*52-219G>A | ENSP00000432021.1:n.*52-219G>A | |
| ENST00000497693.1:n.4435G>A | ||
| NM_012203.1:c.867G>A | NP_036335.1:p.Val289= | |
| XM_005251631.1:c.546G>A | XP_005251688.1:p.Val182= | |
| XM_011518073.1:c.465G>A | XP_011516375.1:p.Val155= | |
| XM_017015320.2:c.946-749G>A | XP_016870809.1:n.946-749G>A | |
| XM_017015321.2:c.866-749G>A | XP_016870810.1:n.866-749G>A | |
| XM_017015323.2:c.544-749G>A | XP_016870812.1:n.544-749G>A | |
| XM_024447716.1:c.1219-749G>A | XP_024303484.1:n.1219-749G>A | |
| XM_024447717.1:c.1139-749G>A | XP_024303485.1:n.1139-749G>A | |
| XR_002956828.1:n.1234-749G>A | ||
| XR_002956829.1:n.1154-749G>A | ||
| XR_002956830.1:n.2287G>A | ||
| XR_002956831.1:n.1962G>A | ||
| XR_002956832.1:n.1286G>A | ||
| NM_012203.2:c.867G>A MANE Select | NP_036335.1:p.Val289= |