Linked Data
ClinVar Variation Id:
981519
ClinVar RCV Id:
RCV001260994
dbSNP Id:
rs1221333968
gnomAD v4:
19-853359-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853359G>C , CM000681.2:g.853359G>C | GRCh38 |
| NC_000019.9:g.853359G>C , CM000681.1:g.853359G>C | GRCh37 |
| NC_000019.8:g.804359G>C | NCBI36 |
| NG_009627.1:g.6069G>C , LRG_57:g.6069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.322G>C MANE Select | ENSP00000263621.1:p.Gly108Arg | |
| ENST00000263621.1:c.322G>C | ENSP00000263621.1:p.Gly108Arg | |
| ENST00000590230.5:c.322G>C | ENSP00000466090.1:p.Gly108Arg | |
| NM_001972.2:c.322G>C , LRG_57t1:c.322G>C | NP_001963.1:p.Gly108Arg | |
| XM_011527775.1:c.322G>C | XP_011526077.1:p.Gly108Arg | |
| XM_011527776.1:c.322G>C | XP_011526078.1:p.Gly108Arg | |
| NM_001972.3:c.322G>C | NP_001963.1:p.Gly108Arg | |
| NM_001972.4:c.322G>C MANE Select | NP_001963.1:p.Gly108Arg |