Linked Data
ClinVar Variation Id:
8856
dbSNP Id:
rs199830292
ExAC:
11:128786525 G / C
gnomAD v2:
11-128786525-G-C
gnomAD v3:
11-128916630-G-C
gnomAD v4:
11-128916630-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128916630G>C , CM000673.2:g.128916630G>C | GRCh38 |
| NC_000011.9:g.128786525G>C , CM000673.1:g.128786525G>C | GRCh37 |
| NC_000011.8:g.128291735G>C | NCBI36 |
| NG_023406.2:g.30213G>C , LRG_333:g.30213G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529694.6:c.1159G>C MANE Select | ENSP00000433295.1:p.Gly387Arg | |
| ENST00000338350.4:c.1159G>C | ENSP00000339960.4:p.Gly387Arg | |
| ENST00000529694.5:c.1159G>C | ENSP00000433295.1:p.Gly387Arg | |
| ENST00000533599.1:c.1159G>C | ENSP00000434266.1:p.Gly387Arg | |
| NM_000890.3:c.1159G>C , LRG_333t1:c.1159G>C | NP_000881.3:p.Gly387Arg | |
| XM_011542809.1:c.1159G>C | XP_011541111.1:p.Gly387Arg | |
| XM_011542810.1:c.1159G>C | XP_011541112.1:p.Gly387Arg | |
| NM_000890.4:c.1159G>C | NP_000881.3:p.Gly387Arg | |
| NM_001354169.1:c.1159G>C | NP_001341098.1:p.Gly387Arg | |
| XM_011542809.2:c.1159G>C | XP_011541111.1:p.Gly387Arg | |
| XM_011542810.3:c.1159G>C | XP_011541112.1:p.Gly387Arg | |
| NM_000890.5:c.1159G>C MANE Select | NP_000881.3:p.Gly387Arg | |
| NM_001354169.2:c.1159G>C | NP_001341098.1:p.Gly387Arg |