Linked Data
ClinVar Variation Id:
2918359
ClinVar RCV Id:
RCV003604554
dbSNP Id:
rs778000587
ExAC:
16:88713574 G / T
gnomAD v2:
16-88713574-G-T
gnomAD v4:
16-88647166-G-T
MyVariant Identifiers:
chr16:g.88713574G>T (hg19)
chr16:g.88713574_88713575delinsTC (hg19)
chr16:g.88647166G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88647166G>T , CM000678.2:g.88647166G>T | GRCh38 |
| NC_000016.9:g.88713574G>T , CM000678.1:g.88713574G>T | GRCh37 |
| NC_000016.8:g.87241075G>T | NCBI36 |
| NG_007291.1:g.8884C>A , LRG_52:g.8884C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.138C>A | ENSP00000455537.2:p.Gly46= | |
| ENST00000696156.1:c.138C>A | ENSP00000512446.1:p.Gly46= | |
| ENST00000696157.1:c.138C>A | ENSP00000512447.1:p.Gly46= | |
| ENST00000696158.1:c.138C>A | ENSP00000512448.1:p.Gly46= | |
| ENST00000696159.1:c.138C>A | ENSP00000512449.1:p.Gly46= | |
| ENST00000696160.1:c.138C>A | ENSP00000512450.1:p.Gly46= | |
| ENST00000696161.1:c.138C>A | ENSP00000512451.1:p.Gly46= | |
| ENST00000696162.1:c.138C>A | ENSP00000512452.1:p.Gly46= | |
| ENST00000696163.1:c.138C>A | ENSP00000512453.1:p.Gly46= | |
| ENST00000261623.8:c.138C>A MANE Select | ENSP00000261623.3:p.Gly46= | |
| ENST00000261623.7:c.138C>A | ENSP00000261623.3:p.Gly46= | |
| ENST00000562209.1:n.156C>A | ||
| ENST00000563526.5:n.113C>A | ||
| ENST00000566229.1:c.127C>A | ENSP00000457060.1:p.Arg43Ser | |
| ENST00000566534.5:n.160C>A | ||
| ENST00000567174.5:c.138C>A | ENSP00000454951.1:p.Gly46= | |
| ENST00000568278.1:c.138C>A | ENSP00000455506.1:p.Gly46= | |
| ENST00000569359.5:c.138C>A | ENSP00000456079.1:p.Gly46= | |
| NM_000101.3:c.138C>A | NP_000092.2:p.Gly46= | |
| XM_011522905.1:c.138C>A | XP_011521207.1:p.Gly46= | |
| XM_011522905.3:c.138C>A | XP_011521207.1:p.Gly46= | |
| NM_000101.4:c.138C>A MANE Select | NP_000092.2:p.Gly46= |