Linked Data
dbSNP Id:
rs775796231
ExAC:
6:3154991 G / A
gnomAD v2:
6-3154991-G-A
gnomAD v4:
6-3154757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154757G>A , CM000668.2:g.3154757G>A | GRCh38 |
| NC_000006.11:g.3154991G>A , CM000668.1:g.3154991G>A | GRCh37 |
| NC_000006.10:g.3099990G>A | NCBI36 |
| NG_042223.1:g.7793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.444C>T MANE Select | ENSP00000369703.2:p.Gly148= | |
| ENST00000679400.1:n.500C>T | ||
| ENST00000679907.1:n.832C>T | ||
| ENST00000680036.1:n.1226C>T | ||
| ENST00000680967.1:n.1534C>T | ||
| ENST00000333628.3:c.444C>T | ENSP00000369703.2:p.Gly148= | |
| ENST00000489942.1:n.639C>T | ||
| NM_001069.2:c.444C>T | NP_001060.1:p.Gly148= | |
| NM_001310315.1:c.189C>T | NP_001297244.1:p.Gly63= | |
| NM_001069.3:c.444C>T MANE Select | NP_001060.1:p.Gly148= | |
| NM_001310315.2:c.189C>T | NP_001297244.1:p.Gly63= |