Linked Data
ClinVar Variation Id:
2946465
ClinVar RCV Id:
RCV003808703
dbSNP Id:
rs370954028
ExAC:
16:31196295 G / A
gnomAD v2:
16-31196295-G-A
gnomAD v4:
16-31184974-G-A
MyVariant Identifiers:
chr16:g.31196295G>A (hg19)
chr16:g.31196295_31196304delinsAGTGGTGGCA (hg19)
chr16:g.31184974G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184974G>A , CM000678.2:g.31184974G>A | GRCh38 |
| NC_000016.9:g.31196295G>A , CM000678.1:g.31196295G>A | GRCh37 |
| NC_000016.8:g.31103796G>A | NCBI36 |
| NG_012889.2:g.9843G>A , LRG_655:g.9843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.559G>A MANE Select | ENSP00000254108.8:p.Gly187Ser | |
| ENST00000254108.11:c.559G>A | ENSP00000254108.7:p.Gly187Ser | |
| ENST00000380244.7:c.556G>A | ENSP00000369594.3:p.Gly186Ser | |
| ENST00000487509.6:n.624G>A | ||
| ENST00000566605.5:c.559G>A | ENSP00000455073.1:p.Gly187Ser | |
| ENST00000568685.1:c.559G>A | ENSP00000455282.1:p.Gly187Ser | |
| NM_001170634.1:c.556G>A | NP_001164105.1:p.Gly186Ser | |
| NM_001170937.1:c.547G>A | NP_001164408.1:p.Gly183Ser | |
| NM_004960.3:c.559G>A , LRG_655t1:c.559G>A | NP_004951.1:p.Gly187Ser | |
| NR_028388.2:n.664G>A | ||
| XM_005255233.3:c.-22G>A | XP_005255290.1:n.-22G>A | |
| XM_011545781.1:c.553G>A | XP_011544083.1:p.Gly185Ser | |
| XM_011545782.1:c.-22G>A | XP_011544084.1:n.-22G>A | |
| XM_005255233.5:c.-22G>A | XP_005255290.1:n.-22G>A | |
| XM_011545782.2:c.-22G>A | XP_011544084.1:n.-22G>A | |
| XM_024450221.1:c.550G>A | XP_024305989.1:p.Gly184Ser | |
| NM_004960.4:c.559G>A MANE Select | NP_004951.1:p.Gly187Ser |