Linked Data
ClinVar Variation Id:
2264
dbSNP Id:
rs104894511
ExAC:
16:88717415 G / A
gnomAD v2:
16-88717415-G-A
gnomAD v4:
16-88651007-G-A
COSMIC:
COSM131493
PubMed:
PMID:10759707
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88651007G>A , CM000678.2:g.88651007G>A | GRCh38 |
| NC_000016.9:g.88717415G>A , CM000678.1:g.88717415G>A | GRCh37 |
| NC_000016.8:g.87244916G>A | NCBI36 |
| NG_007291.1:g.5043C>T , LRG_52:g.5043C>T | |
| NG_052674.1:g.17147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.7C>T | ENSP00000455537.2:p.Gln3Ter | |
| ENST00000696156.1:c.7C>T | ENSP00000512446.1:p.Gln3Ter | |
| ENST00000696157.1:c.7C>T | ENSP00000512447.1:p.Gln3Ter | |
| ENST00000696158.1:c.7C>T | ENSP00000512448.1:p.Gln3Ter | |
| ENST00000696159.1:c.7C>T | ENSP00000512449.1:p.Gln3Ter | |
| ENST00000696160.1:c.7C>T | ENSP00000512450.1:p.Gln3Ter | |
| ENST00000696161.1:c.7C>T | ENSP00000512451.1:p.Gln3Ter | |
| ENST00000696162.1:c.7C>T | ENSP00000512452.1:p.Gln3Ter | |
| ENST00000696163.1:c.7C>T | ENSP00000512453.1:p.Gln3Ter | |
| ENST00000261623.8:c.7C>T MANE Select | ENSP00000261623.3:p.Gln3Ter | |
| ENST00000261623.7:c.7C>T | ENSP00000261623.3:p.Gln3Ter | |
| ENST00000561972.1:n.48C>T | ||
| ENST00000562209.1:n.25C>T | ||
| ENST00000566534.5:n.29C>T | ||
| ENST00000567174.5:c.7C>T | ENSP00000454951.1:p.Gln3Ter | |
| ENST00000568278.1:c.7C>T | ENSP00000455506.1:p.Gln3Ter | |
| ENST00000569359.5:c.7C>T | ENSP00000456079.1:p.Gln3Ter | |
| NM_000101.3:c.7C>T | NP_000092.2:p.Gln3Ter | |
| XM_011522905.1:c.7C>T | XP_011521207.1:p.Gln3Ter | |
| XM_011522905.3:c.7C>T | XP_011521207.1:p.Gln3Ter | |
| NM_000101.4:c.7C>T MANE Select | NP_000092.2:p.Gln3Ter |