Linked Data
ClinVar Variation Id:
1113809
ClinVar RCV Id:
RCV001441311
dbSNP Id:
rs104894514
ExAC:
16:88712539 G / A
gnomAD v2:
16-88712539-G-A
gnomAD v3:
16-88646131-G-A
gnomAD v4:
16-88646131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88646131G>A , CM000678.2:g.88646131G>A | GRCh38 |
| NC_000016.9:g.88712539G>A , CM000678.1:g.88712539G>A | GRCh37 |
| NC_000016.8:g.87240040G>A | NCBI36 |
| NG_007291.1:g.9919C>T , LRG_52:g.9919C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000565588.6:c.354C>T | ENSP00000455537.2:p.Ser118= | |
| ENST00000696156.1:c.270C>T | ENSP00000512446.1:p.Ser90= | |
| ENST00000696157.1:c.354C>T | ENSP00000512447.1:p.Ser118= | |
| ENST00000696158.1:c.354C>T | ENSP00000512448.1:p.Ser118= | |
| ENST00000696159.1:c.354C>T | ENSP00000512449.1:p.Ser118= | |
| ENST00000696160.1:c.354C>T | ENSP00000512450.1:p.Ser118= | |
| ENST00000696161.1:c.484C>T | ENSP00000512451.1:p.Arg162Trp | |
| ENST00000696162.1:c.354C>T | ENSP00000512452.1:p.Ser118= | |
| ENST00000696163.1:c.303C>T | ENSP00000512453.1:p.Ser101= | |
| ENST00000261623.8:c.354C>T MANE Select | ENSP00000261623.3:p.Ser118= | |
| ENST00000261623.7:c.354C>T | ENSP00000261623.3:p.Ser118= | |
| ENST00000563526.5:n.886C>T | ||
| ENST00000565588.5:c.138C>T | ||
| ENST00000566229.1:c.343C>T | ENSP00000457060.1:p.Arg115Trp | |
| ENST00000566534.5:n.933C>T | ||
| ENST00000567174.5:c.354C>T | ENSP00000454951.1:p.Ser118= | |
| ENST00000569359.5:c.354C>T | ENSP00000456079.1:p.Ser118= | |
| NM_000101.3:c.354C>T | NP_000092.2:p.Ser118= | |
| XM_011522905.1:c.354C>T | XP_011521207.1:p.Ser118= | |
| XM_011522905.3:c.354C>T | XP_011521207.1:p.Ser118= | |
| NM_000101.4:c.354C>T MANE Select | NP_000092.2:p.Ser118= |