Linked Data
ClinVar Variation Id:
18409
ClinVar RCV Id:
RCV000001040
dbSNP Id:
rs267607097
ExAC:
2:84670472 C / G
gnomAD v2:
2-84670472-C-G
gnomAD v3:
2-84443348-C-G
gnomAD v4:
2-84443348-C-G
PubMed:
PMID:19526370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443348C>G , CM000664.2:g.84443348C>G | GRCh38 |
| NC_000002.11:g.84670472C>G , CM000664.1:g.84670472C>G | GRCh37 |
| NC_000002.10:g.84523983C>G | NCBI36 |
| NG_016755.1:g.21115G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393868.7:c.254G>C MANE Select | ENSP00000377446.2:p.Gly85Ala | |
| ENST00000651342.1:c.254G>C | ENSP00000498471.1:p.Gly85Ala | |
| ENST00000393868.6:c.254G>C | ENSP00000377446.2:p.Gly85Ala | |
| ENST00000430989.1:n.231G>C | ||
| ENST00000442240.5:c.265G>C | ||
| ENST00000483605.5:n.333G>C | ||
| ENST00000491642.5:n.426G>C | ||
| NM_003849.3:c.254G>C | NP_003840.2:p.Gly85Ala | |
| NM_003849.4:c.254G>C MANE Select | NP_003840.2:p.Gly85Ala |