Linked Data
ClinVar Variation Id:
1024291
ClinVar RCV Id:
RCV001324456
dbSNP Id:
rs751684215
ExAC:
14:21769338 A / G
gnomAD v2:
14-21769338-A-G
gnomAD v3:
14-21301179-A-G
gnomAD v4:
14-21301179-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21301179A>G , CM000676.2:g.21301179A>G | GRCh38 |
| NC_000014.8:g.21769338A>G , CM000676.1:g.21769338A>G | GRCh37 |
| NC_000014.7:g.20839178A>G | NCBI36 |
| NG_008933.1:g.18203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.432A>G MANE Select | ENSP00000382895.2:p.Gln144= | |
| ENST00000400017.6:c.432A>G | ENSP00000382895.2:p.Gln144= | |
| ENST00000554750.1:n.31A>G | ||
| ENST00000556336.5:c.432A>G | ENSP00000450445.1:p.Gln144= | |
| ENST00000557771.5:c.432A>G | ENSP00000451219.1:p.Gln144= | |
| NM_020366.3:c.432A>G | NP_065099.3:p.Gln144= | |
| XM_011536983.1:c.432A>G | XP_011535285.1:p.Gln144= | |
| NM_020366.4:c.432A>G MANE Select | NP_065099.3:p.Gln144= |