Linked Data
dbSNP Id:
rs1230367451
gnomAD v2:
11-46747506-G-A
gnomAD v3:
11-46725956-G-A
gnomAD v4:
11-46725956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725956G>A , CM000673.2:g.46725956G>A | GRCh38 |
| NC_000011.9:g.46747506G>A , CM000673.1:g.46747506G>A | GRCh37 |
| NC_000011.8:g.46704082G>A | NCBI36 |
| NG_008953.1:g.11764G>A , LRG_551:g.11764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.657G>A MANE Select | ENSP00000308541.5:p.Gln219= | |
| ENST00000311907.9:c.657G>A | ENSP00000308541.5:p.Gln219= | |
| ENST00000442468.1:c.627G>A | ENSP00000387413.1:p.Gln209= | |
| ENST00000490274.1:n.437G>A | ||
| ENST00000530231.5:c.657G>A | ENSP00000433907.1:p.Gln219= | |
| NM_000506.3:c.657G>A | NP_000497.1:p.Gln219= | |
| NM_000506.4:c.657G>A , LRG_551t1:c.657G>A | NP_000497.1:p.Gln219= | |
| NM_001311257.1:c.609G>A | NP_001298186.1:p.Gln203= | |
| XR_428840.2:n.701G>A | ||
| XR_428840.4:n.692G>A | ||
| NM_000506.5:c.657G>A MANE Select | NP_000497.1:p.Gln219= | |
| NM_001311257.2:c.609G>A | NP_001298186.1:p.Gln203= |