Linked Data
ClinVar Variation Id:
2691675
ClinVar RCV Id:
RCV003490874
dbSNP Id:
rs200340088
ExAC:
11:65636047 C / T
gnomAD v2:
11-65636047-C-T
gnomAD v3:
11-65868576-C-T
gnomAD v4:
11-65868576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868576C>T , CM000673.2:g.65868576C>T | GRCh38 |
| NC_000011.9:g.65636047C>T , CM000673.1:g.65636047C>T | GRCh37 |
| NC_000011.8:g.65392623C>T | NCBI36 |
| NG_012304.2:g.9359G>A | |
| NG_053116.1:g.13515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.781G>A MANE Select | ENSP00000309953.6:p.Glu261Lys | |
| ENST00000307998.10:c.781G>A | ENSP00000309953.6:p.Glu261Lys | |
| ENST00000526628.5:n.1347G>A | ||
| ENST00000527969.1:n.1466G>A | ||
| ENST00000528176.5:c.781G>A | ENSP00000434151.1:p.Glu261Lys | |
| ENST00000531005.5:n.1775G>A | ||
| ENST00000531972.5:c.781G>A | ENSP00000435295.1:p.Glu261Lys | |
| ENST00000532084.5:n.207G>A | ||
| NM_016938.4:c.781G>A | NP_058634.4:p.Glu261Lys | |
| NR_037718.1:n.1040G>A | ||
| NM_016938.5:c.781G>A MANE Select | NP_058634.4:p.Glu261Lys | |
| NR_037718.2:n.906G>A |