Linked Data
dbSNP Id:
rs754661198
ExAC:
11:6340615 G / A
gnomAD v2:
11-6340615-G-A
gnomAD v4:
11-6319385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319385G>A , CM000673.2:g.6319385G>A | GRCh38 |
| NC_000011.9:g.6340615G>A , CM000673.1:g.6340615G>A | GRCh37 |
| NC_000011.8:g.6297191G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.564C>T MANE Select | ENSP00000307292.3:p.Ser188= | |
| ENST00000303927.3:c.564C>T | ENSP00000307292.3:p.Ser188= | |
| ENST00000524852.1:n.350C>T | ||
| ENST00000530979.1:c.660C>T | ENSP00000432047.1:p.Ser220= | |
| ENST00000532354.1:n.586C>T | ||
| NM_145040.2:c.564C>T | NP_659477.2:p.Ser188= | |
| XR_930997.1:n.720+1165G>A | ||
| XR_242848.4:n.245G>A | ||
| NM_145040.3:c.564C>T MANE Select | NP_659477.2:p.Ser188= |