Linked Data
ClinVar Variation Id:
129008
dbSNP Id:
rs1800124
ExAC:
16:14042077 A / G
gnomAD v2:
16-14042077-A-G
gnomAD v3:
16-13948220-A-G
gnomAD v4:
16-13948220-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948220A>G , CM000678.2:g.13948220A>G | GRCh38 |
| NC_000016.9:g.14042077A>G , CM000678.1:g.14042077A>G | GRCh37 |
| NC_000016.8:g.13949578A>G | NCBI36 |
| NG_011442.1:g.33064A>G , LRG_463:g.33064A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2762A>G | ENSP00000507912.1:p.Glu921Gly | |
| ENST00000683962.1:c.*2318A>G | ENSP00000506854.1:n.*2318A>G | |
| ENST00000311895.8:c.2624A>G MANE Select | ENSP00000310520.7:p.Glu875Gly | |
| ENST00000311895.7:c.2624A>G | ENSP00000310520.7:p.Glu875Gly | |
| ENST00000389138.7:n.1901A>G | ||
| NM_005236.2:c.2624A>G , LRG_463t1:c.2624A>G | NP_005227.1:p.Glu875Gly | |
| XM_011522424.1:c.2762A>G | XP_011520726.1:p.Glu921Gly | |
| XM_011522425.1:c.2081A>G | XP_011520727.1:p.Glu694Gly | |
| XM_011522426.1:c.1835A>G | XP_011520728.1:p.Glu612Gly | |
| XM_011522427.1:c.1274A>G | XP_011520729.1:p.Glu425Gly | |
| XR_932805.1:n.2783A>G | ||
| XM_011522424.3:c.2762A>G | XP_011520726.1:p.Glu921Gly | |
| XM_017023043.2:c.1835A>G | XP_016878532.1:p.Glu612Gly | |
| NM_005236.3:c.2624A>G MANE Select | NP_005227.1:p.Glu875Gly |