Linked Data
dbSNP Id:
rs575804861
ExAC:
11:46747496 A / G
gnomAD v2:
11-46747496-A-G
gnomAD v3:
11-46725946-A-G
gnomAD v4:
11-46725946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725946A>G , CM000673.2:g.46725946A>G | GRCh38 |
| NC_000011.9:g.46747496A>G , CM000673.1:g.46747496A>G | GRCh37 |
| NC_000011.8:g.46704072A>G | NCBI36 |
| NG_008953.1:g.11754A>G , LRG_551:g.11754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.647A>G MANE Select | ENSP00000308541.5:p.Asp216Gly | |
| ENST00000311907.9:c.647A>G | ENSP00000308541.5:p.Asp216Gly | |
| ENST00000442468.1:c.617A>G | ENSP00000387413.1:p.Asp206Gly | |
| ENST00000490274.1:n.427A>G | ||
| ENST00000530231.5:c.647A>G | ENSP00000433907.1:p.Asp216Gly | |
| NM_000506.3:c.647A>G | NP_000497.1:p.Asp216Gly | |
| NM_000506.4:c.647A>G , LRG_551t1:c.647A>G | NP_000497.1:p.Asp216Gly | |
| NM_001311257.1:c.599A>G | NP_001298186.1:p.Asp200Gly | |
| XR_428840.2:n.691A>G | ||
| XR_428840.4:n.682A>G | ||
| NM_000506.5:c.647A>G MANE Select | NP_000497.1:p.Asp216Gly | |
| NM_001311257.2:c.599A>G | NP_001298186.1:p.Asp200Gly |