Linked Data
ClinVar Variation Id:
17701
ClinVar RCV Id:
RCV000019275
dbSNP Id:
rs121912765
ExAC:
14:54418663 T / C
gnomAD v2:
14-54418663-T-C
gnomAD v3:
14-53951945-T-C
gnomAD v4:
14-53951945-T-C
PubMed:
PMID:18252212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53951945T>C , CM000676.2:g.53951945T>C | GRCh38 |
| NC_000014.8:g.54418663T>C , CM000676.1:g.54418663T>C | GRCh37 |
| NC_000014.7:g.53488413T>C | NCBI36 |
| NG_009215.1:g.9892A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245451.9:c.278A>G MANE Select | ENSP00000245451.4:p.Glu93Gly | |
| ENST00000245451.8:c.278A>G | ENSP00000245451.4:p.Glu93Gly | |
| ENST00000417573.5:c.278A>G | ENSP00000394165.1:p.Glu93Gly | |
| ENST00000558961.1:c.203A>G | ENSP00000453691.1:p.Glu68Gly | |
| ENST00000558984.1:c.278A>G | ENSP00000454134.1:p.Glu93Gly | |
| ENST00000559087.5:c.278A>G | ENSP00000453485.1:p.Glu93Gly | |
| ENST00000559501.1:c.89A>G | ENSP00000453365.1:p.Glu30Gly | |
| ENST00000559642.1:c.278A>G | ENSP00000453467.1:p.Glu93Gly | |
| NM_001202.3:c.278A>G | NP_001193.2:p.Glu93Gly | |
| NM_130850.2:c.278A>G | NP_570911.2:p.Glu93Gly | |
| NM_130851.2:c.278A>G | NP_570912.2:p.Glu93Gly | |
| XM_005268015.3:c.278A>G | XP_005268072.1:p.Glu93Gly | |
| NM_001202.5:c.278A>G | NP_001193.2:p.Glu93Gly | |
| NM_001347912.1:c.419A>G | NP_001334841.1:p.Glu140Gly | |
| NM_001347913.1:c.89A>G | NP_001334842.1:p.Glu30Gly | |
| NM_001347914.1:c.278A>G | NP_001334843.1:p.Glu93Gly | |
| NM_001347915.1:c.89A>G | NP_001334844.1:p.Glu30Gly | |
| NM_001347916.1:c.278A>G | NP_001334845.1:p.Glu93Gly | |
| NM_001347917.1:c.89A>G | NP_001334846.1:p.Glu30Gly | |
| NM_130850.4:c.278A>G | NP_570911.2:p.Glu93Gly | |
| NM_130851.3:c.278A>G | NP_570912.2:p.Glu93Gly | |
| NM_001202.6:c.278A>G MANE Select | NP_001193.2:p.Glu93Gly | |
| NM_130850.5:c.278A>G | NP_570911.2:p.Glu93Gly | |
| NM_001347913.2:c.89A>G | NP_001334842.1:p.Glu30Gly | |
| NM_001347914.2:c.278A>G | NP_001334843.1:p.Glu93Gly | |
| NM_001347915.2:c.89A>G | NP_001334844.1:p.Glu30Gly | |
| NM_130851.4:c.278A>G | NP_570912.2:p.Glu93Gly |