Linked Data
ClinVar Variation Id:
1610
ClinVar RCV Id:
RCV000001677
dbSNP Id:
rs118204021
gnomAD v4:
14-50302994-C-T
PubMed:
PMID:15385440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50302994C>T , CM000676.2:g.50302994C>T | GRCh38 |
| NC_000014.8:g.50769712C>T , CM000676.1:g.50769712C>T | GRCh37 |
| NC_000014.7:g.49839462C>T | NCBI36 |
| NG_008092.1:g.14236G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267436.9:c.164G>A MANE Select | ENSP00000267436.4:p.Gly55Asp | |
| ENST00000261699.8:c.164G>A | ENSP00000261699.4:p.Gly55Asp | |
| ENST00000267436.8:c.164G>A | ENSP00000267436.4:p.Gly55Asp | |
| ENST00000421284.7:c.164G>A | ENSP00000405559.3:p.Gly55Asp | |
| ENST00000554191.5:c.*27G>A | ENSP00000451194.1:n.*27G>A | |
| ENST00000555423.5:c.164G>A | ENSP00000450494.1:p.Gly55Asp | |
| ENST00000555610.1:c.164G>A | ENSP00000452483.1:p.Gly55Asp | |
| ENST00000556393.1:n.304G>A | ||
| NM_024884.2:c.164G>A | NP_079160.1:p.Gly55Asp | |
| XM_005268075.3:c.164G>A | XP_005268132.1:p.Gly55Asp | |
| XM_011537166.1:c.53G>A | XP_011535468.1:p.Gly18Asp | |
| XM_011537167.1:c.29G>A | XP_011535469.1:p.Gly10Asp | |
| XR_943538.1:n.403G>A | ||
| XM_005268075.5:c.164G>A | XP_005268132.1:p.Gly55Asp | |
| XM_011537166.3:c.53G>A | XP_011535468.1:p.Gly18Asp | |
| XM_011537167.3:c.29G>A | XP_011535469.1:p.Gly10Asp | |
| XM_017021655.2:c.53G>A | XP_016877144.1:p.Gly18Asp | |
| XM_017021656.2:c.-462G>A | XP_016877145.1:n.-462G>A | |
| XM_017021657.2:c.-462G>A | XP_016877146.1:n.-462G>A | |
| XM_017021658.1:c.164G>A | XP_016877147.1:p.Gly55Asp | |
| NM_024884.3:c.164G>A MANE Select | NP_079160.1:p.Gly55Asp |