Linked Data
ClinVar Variation Id:
4336
dbSNP Id:
rs104894425
ExAC:
14:75472609 A / G
gnomAD v2:
14-75472609-A-G
gnomAD v3:
14-75005906-A-G
gnomAD v4:
14-75005906-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005906A>G , CM000676.2:g.75005906A>G | GRCh38 |
| NC_000014.8:g.75472609A>G , CM000676.1:g.75472609A>G | GRCh37 |
| NC_000014.7:g.74542362A>G | NCBI36 |
| NG_013333.1:g.7998A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.638A>G MANE Select | ENSP00000266126.5:p.Glu213Gly | |
| ENST00000266126.9:c.638A>G | ENSP00000266126.5:p.Glu213Gly | |
| ENST00000553401.5:c.636A>G | ENSP00000451681.1:n.636A>G | |
| ENST00000554748.2:c.2A>G | ENSP00000452582.2:p.Glu1Gly | |
| ENST00000556028.5:c.607A>G | ENSP00000452311.1:p.Arg203Gly | |
| NM_014239.3:c.638A>G | NP_055054.1:p.Glu213Gly | |
| NM_014239.4:c.638A>G MANE Select | NP_055054.1:p.Glu213Gly |