Linked Data
ClinVar Variation Id:
711917
ClinVar RCV Id:
RCV000883749
dbSNP Id:
rs74578417
ExAC:
11:122666888 G / A
gnomAD v2:
11-122666888-G-A
gnomAD v3:
11-122796180-G-A
gnomAD v4:
11-122796180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122796180G>A , CM000673.2:g.122796180G>A | GRCh38 |
| NC_000011.9:g.122666888G>A , CM000673.1:g.122666888G>A | GRCh37 |
| NC_000011.8:g.122172098G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284273.6:c.1138G>A MANE Select | ENSP00000284273.5:p.Gly380Ser | |
| ENST00000284273.5:c.1138G>A | ENSP00000284273.5:p.Gly380Ser | |
| ENST00000530578.1:n.82G>A | ||
| NM_032873.4:c.1138G>A | NP_116262.2:p.Gly380Ser | |
| XM_005271712.2:c.1222G>A | XP_005271769.1:p.Gly408Ser | |
| XM_011543041.1:c.1081G>A | XP_011541343.1:p.Gly361Ser | |
| XM_011543042.1:c.1033G>A | XP_011541344.1:p.Gly345Ser | |
| NM_001363365.1:c.1033G>A | NP_001350294.1:p.Gly345Ser | |
| XM_005271712.3:c.1222G>A | XP_005271769.1:p.Gly408Ser | |
| XM_011543041.2:c.1081G>A | XP_011541343.1:p.Gly361Ser | |
| NM_032873.5:c.1138G>A MANE Select | NP_116262.2:p.Gly380Ser | |
| NM_001363365.2:c.1033G>A | NP_001350294.1:p.Gly345Ser |