Linked Data
ClinVar Variation Id:
472832
ClinVar RCV Id:
RCV000533060
dbSNP Id:
rs779131358
ExAC:
11:65636045 C / T
gnomAD v2:
11-65636045-C-T
gnomAD v3:
11-65868574-C-T
gnomAD v4:
11-65868574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868574C>T , CM000673.2:g.65868574C>T | GRCh38 |
| NC_000011.9:g.65636045C>T , CM000673.1:g.65636045C>T | GRCh37 |
| NC_000011.8:g.65392621C>T | NCBI36 |
| NG_012304.2:g.9361G>A | |
| NG_053116.1:g.13513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.783G>A MANE Select | ENSP00000309953.6:p.Glu261= | |
| ENST00000307998.10:c.783G>A | ENSP00000309953.6:p.Glu261= | |
| ENST00000526628.5:n.1349G>A | ||
| ENST00000527969.1:n.1468G>A | ||
| ENST00000528176.5:c.783G>A | ENSP00000434151.1:p.Glu261= | |
| ENST00000531005.5:n.1777G>A | ||
| ENST00000531972.5:c.783G>A | ENSP00000435295.1:p.Glu261= | |
| ENST00000532084.5:n.209G>A | ||
| NM_016938.4:c.783G>A | NP_058634.4:p.Glu261= | |
| NR_037718.1:n.1042G>A | ||
| NM_016938.5:c.783G>A MANE Select | NP_058634.4:p.Glu261= | |
| NR_037718.2:n.908G>A |