Linked Data
dbSNP Id:
rs143904799
ExAC:
11:5274522 G / A
gnomAD v2:
11-5274522-G-A
gnomAD v3:
11-5253292-G-A
gnomAD v4:
11-5253292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253292G>A , CM000673.2:g.5253292G>A | GRCh38 |
| NC_000011.9:g.5274522G>A , CM000673.1:g.5274522G>A | GRCh37 |
| NC_000011.8:g.5231098G>A | NCBI36 |
| NG_000007.3:g.44324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.429C>T MANE Select | ENSP00000338082.4:p.Ser143= | |
| ENST00000380252.6:c.264C>T | ENSP00000369602.2:p.Ser88= | |
| ENST00000642908.1:c.315+1000C>T | ENSP00000495346.1:n.315+1000C>T | |
| ENST00000647543.1:c.378+51C>T | ENSP00000496470.1:n.378+51C>T | |
| ENST00000336906.4:c.429C>T | ENSP00000338082.4:p.Ser143= | |
| ENST00000380252.5:c.399C>T | ENSP00000369602.1:p.Ser133= | |
| ENST00000380259.6:c.429C>T | ENSP00000369609.2:p.Ser143= | |
| ENST00000620888.4:c.315+1000C>T | ENSP00000479637.1:n.315+1000C>T | |
| NM_000184.2:c.429C>T | NP_000175.1:p.Ser143= | |
| NM_000184.3:c.429C>T MANE Select | NP_000175.1:p.Ser143= |