Linked Data
dbSNP Id:
rs776922618
ExAC:
19:853387 A / G
gnomAD v2:
19-853387-A-G
gnomAD v4:
19-853387-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853387A>G , CM000681.2:g.853387A>G | GRCh38 |
| NC_000019.9:g.853387A>G , CM000681.1:g.853387A>G | GRCh37 |
| NC_000019.8:g.804387A>G | NCBI36 |
| NG_009627.1:g.6097A>G , LRG_57:g.6097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.350A>G MANE Select | ENSP00000263621.1:p.Asp117Gly | |
| ENST00000263621.1:c.350A>G | ENSP00000263621.1:p.Asp117Gly | |
| ENST00000590230.5:c.350A>G | ENSP00000466090.1:p.Asp117Gly | |
| NM_001972.2:c.350A>G , LRG_57t1:c.350A>G | NP_001963.1:p.Asp117Gly | |
| XM_011527775.1:c.350A>G | XP_011526077.1:p.Asp117Gly | |
| XM_011527776.1:c.350A>G | XP_011526078.1:p.Asp117Gly | |
| NM_001972.3:c.350A>G | NP_001963.1:p.Asp117Gly | |
| NM_001972.4:c.350A>G MANE Select | NP_001963.1:p.Asp117Gly |