Linked Data
ClinVar Variation Id:
366858
dbSNP Id:
rs74692381
ExAC:
9:37430591 A / G
gnomAD v2:
9-37430591-A-G
gnomAD v3:
9-37430594-A-G
gnomAD v4:
9-37430594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37430594A>G , CM000671.2:g.37430594A>G | GRCh38 |
| NC_000009.11:g.37430591A>G , CM000671.1:g.37430591A>G | GRCh37 |
| NC_000009.10:g.37420591A>G | NCBI36 |
| NG_008135.1:g.12885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.682A>G MANE Select | ENSP00000313432.6:p.Lys228Glu | |
| ENST00000318158.10:c.682A>G | ENSP00000313432.6:p.Lys228Glu | |
| ENST00000377824.8:n.719A>G | ||
| ENST00000460882.5:n.709A>G | ||
| ENST00000480596.5:n.1383A>G | ||
| ENST00000482603.1:n.135A>G | ||
| ENST00000491488.5:n.387A>G | ||
| ENST00000494290.1:c.253A>G | ENSP00000432021.1:p.Lys85Glu | |
| ENST00000497693.1:n.2889A>G | ||
| ENST00000607784.1:c.682A>G | ENSP00000475569.1:p.Lys228Glu | |
| NM_012203.1:c.682A>G | NP_036335.1:p.Lys228Glu | |
| XM_005251631.1:c.361A>G | XP_005251688.1:p.Lys121Glu | |
| XM_011518073.1:c.280A>G | XP_011516375.1:p.Lys94Glu | |
| XR_929374.1:n.1127A>G | ||
| XM_017015320.2:c.682A>G | XP_016870809.1:p.Lys228Glu | |
| XM_017015321.2:c.682A>G | XP_016870810.1:p.Lys228Glu | |
| XM_017015323.2:c.280A>G | XP_016870812.1:p.Lys94Glu | |
| XM_024447716.1:c.955A>G | XP_024303484.1:p.Lys319Glu | |
| XM_024447717.1:c.955A>G | XP_024303485.1:p.Lys319Glu | |
| XR_002956828.1:n.970A>G | ||
| XR_002956829.1:n.970A>G | ||
| XR_002956830.1:n.741A>G | ||
| XR_002956831.1:n.416A>G | ||
| XR_002956832.1:n.1101A>G | ||
| NM_012203.2:c.682A>G MANE Select | NP_036335.1:p.Lys228Glu |