Linked Data
ClinVar Variation Id:
2989092
ClinVar RCV Id:
RCV003849243
dbSNP Id:
rs1176382984
gnomAD v2:
11-65635807-G-A
gnomAD v3:
11-65868336-G-A
gnomAD v4:
11-65868336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868336G>A , CM000673.2:g.65868336G>A | GRCh38 |
| NC_000011.9:g.65635807G>A , CM000673.1:g.65635807G>A | GRCh37 |
| NC_000011.8:g.65392383G>A | NCBI36 |
| NG_012304.2:g.9599C>T | |
| NG_053116.1:g.13275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.933C>T MANE Select | ENSP00000309953.6:p.Asp311= | |
| ENST00000307998.10:c.933C>T | ENSP00000309953.6:p.Asp311= | |
| ENST00000525392.1:n.94C>T | ||
| ENST00000526628.5:n.1499C>T | ||
| ENST00000528176.5:c.933C>T | ENSP00000434151.1:p.Asp311= | |
| ENST00000528409.1:n.177C>T | ||
| ENST00000530806.5:c.-66C>T | ENSP00000436526.1:n.-66C>T | |
| ENST00000531005.5:n.1927C>T | ||
| ENST00000531645.5:c.81C>T | ENSP00000436521.1:p.Asp27= | |
| ENST00000531972.5:c.933C>T | ENSP00000435295.1:p.Asp311= | |
| ENST00000532084.5:n.359C>T | ||
| NM_016938.4:c.933C>T | NP_058634.4:p.Asp311= | |
| NR_037718.1:n.1192C>T | ||
| NM_016938.5:c.933C>T MANE Select | NP_058634.4:p.Asp311= | |
| NR_037718.2:n.1058C>T |