Linked Data
dbSNP Id:
rs753887706
ExAC:
6:3155015 C / A
gnomAD v2:
6-3155015-C-A
gnomAD v4:
6-3154781-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154781C>A , CM000668.2:g.3154781C>A | GRCh38 |
| NC_000006.11:g.3155015C>A , CM000668.1:g.3155015C>A | GRCh37 |
| NC_000006.10:g.3100014C>A | NCBI36 |
| NG_042223.1:g.7769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.420G>T MANE Select | ENSP00000369703.2:p.Gly140= | |
| ENST00000679400.1:n.476G>T | ||
| ENST00000679907.1:n.808G>T | ||
| ENST00000680036.1:n.1202G>T | ||
| ENST00000680967.1:n.1510G>T | ||
| ENST00000333628.3:c.420G>T | ENSP00000369703.2:p.Gly140= | |
| ENST00000489942.1:n.615G>T | ||
| NM_001069.2:c.420G>T | NP_001060.1:p.Gly140= | |
| NM_001310315.1:c.165G>T | NP_001297244.1:p.Gly55= | |
| NM_001069.3:c.420G>T MANE Select | NP_001060.1:p.Gly140= | |
| NM_001310315.2:c.165G>T | NP_001297244.1:p.Gly55= |