Linked Data
ClinVar Variation Id:
29708
ClinVar RCV Id:
RCV000022557
dbSNP Id:
rs387906628
ExAC:
16:31196352 G / A
gnomAD v2:
16-31196352-G-A
gnomAD v3:
16-31185031-G-A
gnomAD v4:
16-31185031-G-A
PubMed:
PMID:20668259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31185031G>A , CM000678.2:g.31185031G>A | GRCh38 |
| NC_000016.9:g.31196352G>A , CM000678.1:g.31196352G>A | GRCh37 |
| NC_000016.8:g.31103853G>A | NCBI36 |
| NG_012889.2:g.9900G>A , LRG_655:g.9900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.616G>A MANE Select | ENSP00000254108.8:p.Gly206Ser | |
| ENST00000254108.11:c.616G>A | ENSP00000254108.7:p.Gly206Ser | |
| ENST00000380244.7:c.613G>A | ENSP00000369594.3:p.Gly205Ser | |
| ENST00000487509.6:n.681G>A | ||
| ENST00000566605.5:c.616G>A | ENSP00000455073.1:p.Gly206Ser | |
| ENST00000568685.1:c.616G>A | ENSP00000455282.1:p.Gly206Ser | |
| NM_001170634.1:c.613G>A | NP_001164105.1:p.Gly205Ser | |
| NM_001170937.1:c.604G>A | NP_001164408.1:p.Gly202Ser | |
| NM_004960.3:c.616G>A , LRG_655t1:c.616G>A | NP_004951.1:p.Gly206Ser | |
| NR_028388.2:n.721G>A | ||
| XM_005255233.3:c.36G>A | XP_005255290.1:p.Ala12= | |
| XM_011545781.1:c.610G>A | XP_011544083.1:p.Gly204Ser | |
| XM_011545782.1:c.36G>A | XP_011544084.1:p.Ala12= | |
| XM_005255233.5:c.36G>A | XP_005255290.1:p.Ala12= | |
| XM_011545782.2:c.36G>A | XP_011544084.1:p.Ala12= | |
| XM_024450221.1:c.607G>A | XP_024305989.1:p.Gly203Ser | |
| NM_004960.4:c.616G>A MANE Select | NP_004951.1:p.Gly206Ser |