Linked Data
ClinVar Variation Id:
2259
dbSNP Id:
rs104894514
ExAC:
16:88712539 G / T
gnomAD v2:
16-88712539-G-T
gnomAD v3:
16-88646131-G-T
gnomAD v4:
16-88646131-G-T
PubMed:
PMID:2243141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88646131G>T , CM000678.2:g.88646131G>T | GRCh38 |
| NC_000016.9:g.88712539G>T , CM000678.1:g.88712539G>T | GRCh37 |
| NC_000016.8:g.87240040G>T | NCBI36 |
| NG_007291.1:g.9919C>A , LRG_52:g.9919C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.354C>A | ENSP00000455537.2:p.Ser118Arg | |
| ENST00000696156.1:c.270C>A | ENSP00000512446.1:p.Ser90Arg | |
| ENST00000696157.1:c.354C>A | ENSP00000512447.1:p.Ser118Arg | |
| ENST00000696158.1:c.354C>A | ENSP00000512448.1:p.Ser118Arg | |
| ENST00000696159.1:c.354C>A | ENSP00000512449.1:p.Ser118Arg | |
| ENST00000696160.1:c.354C>A | ENSP00000512450.1:p.Ser118Arg | |
| ENST00000696161.1:c.484C>A | ENSP00000512451.1:p.Arg162= | |
| ENST00000696162.1:c.354C>A | ENSP00000512452.1:p.Ser118Arg | |
| ENST00000696163.1:c.303C>A | ENSP00000512453.1:p.Ser101Arg | |
| ENST00000261623.8:c.354C>A MANE Select | ENSP00000261623.3:p.Ser118Arg | |
| ENST00000261623.7:c.354C>A | ENSP00000261623.3:p.Ser118Arg | |
| ENST00000563526.5:n.886C>A | ||
| ENST00000565588.5:c.138C>A | ||
| ENST00000566229.1:c.343C>A | ENSP00000457060.1:p.Arg115= | |
| ENST00000566534.5:n.933C>A | ||
| ENST00000567174.5:c.354C>A | ENSP00000454951.1:p.Ser118Arg | |
| ENST00000569359.5:c.354C>A | ENSP00000456079.1:p.Ser118Arg | |
| NM_000101.3:c.354C>A | NP_000092.2:p.Ser118Arg | |
| XM_011522905.1:c.354C>A | XP_011521207.1:p.Ser118Arg | |
| XM_011522905.3:c.354C>A | XP_011521207.1:p.Ser118Arg | |
| NM_000101.4:c.354C>A MANE Select | NP_000092.2:p.Ser118Arg |