Linked Data
ClinVar Variation Id:
2147774
ClinVar RCV Id:
RCV003068517
dbSNP Id:
rs1324380637
gnomAD v2:
11-2188256-C-A
gnomAD v4:
11-2167026-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167026C>A , CM000673.2:g.2167026C>A | GRCh38 |
| NC_000011.9:g.2188256C>A , CM000673.1:g.2188256C>A | GRCh37 |
| NC_000011.8:g.2144832C>A | NCBI36 |
| NG_008128.1:g.9780G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.702G>T MANE Select | ENSP00000325951.4:p.Glu234Asp | |
| ENST00000324155.8:c.*391G>T | ENSP00000325831.3:n.*391G>T | |
| ENST00000333684.9:c.695+409G>T | ENSP00000328814.6:n.695+409G>T | |
| ENST00000352909.7:c.702G>T | ENSP00000325951.3:p.Glu234Asp | |
| ENST00000381168.7:c.*422G>T | ENSP00000370560.3:n.*422G>T | |
| ENST00000381175.5:c.783G>T | ENSP00000370567.1:p.Glu261Asp | |
| ENST00000381178.5:c.795G>T | ENSP00000370571.1:p.Glu265Asp | |
| ENST00000412076.1:c.135+409G>T | ||
| ENST00000416223.5:c.136-258G>T | ||
| ENST00000469226.1:n.831G>T | ||
| ENST00000479437.5:n.251G>T | ||
| NM_000360.3:c.702G>T | NP_000351.2:p.Glu234Asp | |
| NM_199292.2:c.795G>T | NP_954986.2:p.Glu265Asp | |
| NM_199293.2:c.783G>T | NP_954987.2:p.Glu261Asp | |
| XM_011520335.1:c.714G>T | XP_011518637.1:p.Glu238Asp | |
| XM_011520335.2:c.714G>T | XP_011518637.1:p.Glu238Asp | |
| NM_000360.4:c.702G>T MANE Select | NP_000351.2:p.Glu234Asp | |
| NM_199292.3:c.795G>T | NP_954986.2:p.Glu265Asp | |
| NM_199293.3:c.783G>T | NP_954987.2:p.Glu261Asp |