Linked Data
ClinVar Variation Id:
16815
ClinVar RCV Id:
RCV000018308
dbSNP Id:
rs121913011
ExAC:
18:29104517 A / G
gnomAD v2:
18-29104517-A-G
gnomAD v4:
18-31524554-A-G
PubMed:
PMID:16505173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524554A>G , CM000680.2:g.31524554A>G | GRCh38 |
| NC_000018.9:g.29104517A>G , CM000680.1:g.29104517A>G | GRCh37 |
| NC_000018.8:g.27358515A>G | NCBI36 |
| NG_007072.3:g.31313A>G , LRG_397:g.31313A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.628A>G | ||
| ENST00000683614.2:n.628A>G | ||
| ENST00000682087.1:c.628A>G | ||
| ENST00000683614.1:c.628A>G | ||
| ENST00000261590.13:c.797A>G MANE Select | ENSP00000261590.8:p.Asn266Ser | |
| ENST00000261590.12:c.797A>G | ENSP00000261590.8:p.Asn266Ser | |
| NM_001943.3:c.797A>G , LRG_397t1:c.797A>G | NP_001934.2:p.Asn266Ser | |
| NM_001943.4:c.797A>G | NP_001934.2:p.Asn266Ser | |
| XM_024451095.1:c.263A>G | XP_024306863.1:p.Asn88Ser | |
| NM_001943.5:c.797A>G MANE Select | NP_001934.2:p.Asn266Ser |