Linked Data
dbSNP Id:
rs373190352
gnomAD v4:
11-6319496-G-A
MyVariant Identifiers:
chr11:g.6340726G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319496G>A , CM000673.2:g.6319496G>A | GRCh38 |
| NC_000011.9:g.6340726G>A , CM000673.1:g.6340726G>A | GRCh37 |
| NC_000011.8:g.6297302G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.453C>T MANE Select | ENSP00000307292.3:p.Ser151= | |
| ENST00000303927.3:c.453C>T | ENSP00000307292.3:p.Ser151= | |
| ENST00000524852.1:n.239C>T | ||
| ENST00000530979.1:c.549C>T | ENSP00000432047.1:p.Ser183= | |
| ENST00000532354.1:n.475C>T | ||
| NM_145040.2:c.453C>T | NP_659477.2:p.Ser151= | |
| XR_930997.1:n.720+1276G>A | ||
| XR_001748106.1:n.107G>A | ||
| XR_242848.4:n.356G>A | ||
| NM_145040.3:c.453C>T MANE Select | NP_659477.2:p.Ser151= |