Linked Data
dbSNP Id:
rs750250385
ExAC:
11:6340439 G / A
gnomAD v2:
11-6340439-G-A
gnomAD v3:
11-6319209-G-A
gnomAD v4:
11-6319209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319209G>A , CM000673.2:g.6319209G>A | GRCh38 |
| NC_000011.9:g.6340439G>A , CM000673.1:g.6340439G>A | GRCh37 |
| NC_000011.8:g.6297015G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.740C>T MANE Select | ENSP00000307292.3:p.Pro247Leu | |
| ENST00000303927.3:c.740C>T | ENSP00000307292.3:p.Pro247Leu | |
| ENST00000524852.1:n.526C>T | ||
| ENST00000530979.1:c.836C>T | ENSP00000432047.1:p.Pro279Leu | |
| ENST00000532354.1:n.762C>T | ||
| NM_145040.2:c.740C>T | NP_659477.2:p.Pro247Leu | |
| XR_930997.1:n.720+989G>A | ||
| XR_242848.4:n.69G>A | ||
| NM_145040.3:c.740C>T MANE Select | NP_659477.2:p.Pro247Leu |