Linked Data
dbSNP Id:
rs550297587
ExAC:
11:118183444 A / G
gnomAD v2:
11-118183444-A-G
gnomAD v3:
11-118312729-A-G
gnomAD v4:
11-118312729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312729A>G , CM000673.2:g.118312729A>G | GRCh38 |
| NC_000011.9:g.118183444A>G , CM000673.1:g.118183444A>G | GRCh37 |
| NC_000011.8:g.117688654A>G | NCBI36 |
| NG_007383.1:g.13150A>G , LRG_38:g.13150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.215A>G MANE Select | ENSP00000354566.4:p.Asp72Gly | |
| ENST00000361763.8:c.215A>G | ENSP00000354566.4:p.Asp72Gly | |
| ENST00000526146.5:n.761A>G | ||
| ENST00000528435.5:n.768A>G | ||
| ENST00000528600.1:c.197A>G | ENSP00000433975.1:p.Asp66Gly | |
| ENST00000529713.5:n.321A>G | ||
| ENST00000531913.1:n.586A>G | ||
| NM_000733.3:c.215A>G , LRG_38t1:c.215A>G | NP_000724.1:p.Asp72Gly | |
| NM_000733.4:c.215A>G MANE Select | NP_000724.1:p.Asp72Gly |