Linked Data
ClinVar Variation Id:
6040
ClinVar RCV Id:
RCV000006412
dbSNP Id:
rs28937593
gnomAD v4:
10-72007942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007942G>A , CM000672.2:g.72007942G>A | GRCh38 |
| NC_000010.10:g.73767700G>A , CM000672.1:g.73767700G>A | GRCh37 |
| NC_000010.9:g.73437706G>A | NCBI36 |
| NG_012635.1:g.48581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.911G>A MANE Select | ENSP00000362207.4:p.Arg304Gln | |
| ENST00000373115.4:c.911G>A | ENSP00000362207.4:p.Arg304Gln | |
| NM_004273.4:c.911G>A | NP_004264.2:p.Arg304Gln | |
| XM_006718075.2:c.911G>A | XP_006718138.1:p.Arg304Gln | |
| XM_011540369.1:c.911G>A | XP_011538671.1:p.Arg304Gln | |
| XM_006718075.4:c.911G>A | XP_006718138.1:p.Arg304Gln | |
| XM_011540369.2:c.911G>A | XP_011538671.1:p.Arg304Gln | |
| NM_004273.5:c.911G>A MANE Select | NP_004264.2:p.Arg304Gln |