Linked Data
ClinVar Variation Id:
6609
ClinVar RCV Id:
RCV003555950
dbSNP Id:
rs121908928
gnomAD v4:
14-30878834-G-A
PubMed:
PMID:9806553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30878834G>A , CM000676.2:g.30878834G>A | GRCh38 |
| NC_000014.8:g.31348040G>A , CM000676.1:g.31348040G>A | GRCh37 |
| NC_000014.7:g.30417791G>A | NCBI36 |
| NG_008211.2:g.9300G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.458G>A | ENSP00000216361.5:p.Gly153Glu | |
| ENST00000396618.9:c.263G>A MANE Select | ENSP00000379862.3:p.Gly88Glu | |
| ENST00000555117.2:c.263G>A | ENSP00000493569.1:p.Gly88Glu | |
| ENST00000643575.1:c.263G>A | ENSP00000494838.1:p.Gly88Glu | |
| ENST00000643697.1:n.508G>A | ||
| ENST00000644874.2:c.263G>A | ENSP00000496360.1:p.Gly88Glu | |
| ENST00000216361.8:c.263G>A | ENSP00000216361.4:p.Gly88Glu | |
| ENST00000396618.7:c.263G>A | ENSP00000379862.3:p.Gly88Glu | |
| ENST00000460581.6:c.-74G>A | ENSP00000451713.1:n.-74G>A | |
| ENST00000475087.5:c.263G>A | ENSP00000451528.1:p.Gly88Glu | |
| ENST00000553772.5:c.239+1106G>A | ENSP00000452343.1:n.239+1106G>A | |
| ENST00000553833.5:n.417G>A | ||
| ENST00000555881.5:c.83-1618G>A | ENSP00000452569.1:n.83-1618G>A | |
| ENST00000556908.5:c.215G>A | ENSP00000452541.1:p.Gly72Glu | |
| ENST00000557065.1:c.156-589G>A | ENSP00000451629.1:n.156-589G>A | |
| NM_001135058.1:c.263G>A | NP_001128530.1:p.Gly88Glu | |
| NM_004086.2:c.263G>A | NP_004077.1:p.Gly88Glu | |
| NR_038356.1:n.1618-2282C>T | ||
| XM_011536539.1:c.263G>A | XP_011534841.1:p.Gly88Glu | |
| NM_001347720.1:c.458G>A | NP_001334649.1:p.Gly153Glu | |
| XM_017021071.1:c.458G>A | XP_016876560.1:p.Gly153Glu | |
| XM_024449506.1:c.263G>A | XP_024305274.1:p.Gly88Glu | |
| NM_004086.3:c.263G>A MANE Select | NP_004077.1:p.Gly88Glu | |
| NM_001135058.2:c.263G>A | NP_001128530.1:p.Gly88Glu | |
| NM_001347720.2:c.458G>A | NP_001334649.1:p.Gly153Glu |