Linked Data
ClinVar Variation Id:
15176
dbSNP Id:
rs34387455
ExAC:
11:5248229 T / C
gnomAD v2:
11-5248229-T-C
gnomAD v4:
11-5226999-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226999T>C , CM000673.2:g.5226999T>C | GRCh38 |
| NC_000011.9:g.5248229T>C , CM000673.1:g.5248229T>C | GRCh37 |
| NC_000011.8:g.5204805T>C | NCBI36 |
| NG_000007.3:g.70617A>G | |
| NG_059281.1:g.5073A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.23A>G | ENSP00000494175.1:p.Glu8Gly | |
| ENST00000335295.4:c.23A>G MANE Select | ENSP00000333994.3:p.Glu8Gly | |
| ENST00000380315.2:c.23A>G | ENSP00000369671.2:p.Glu8Gly | |
| ENST00000485743.1:n.74A>G | ||
| ENST00000633227.1:c.23A>G | ENSP00000488004.1:p.Glu8Gly | |
| NM_000518.4:c.23A>G | NP_000509.1:p.Glu8Gly | |
| NM_000518.5:c.23A>G MANE Select | NP_000509.1:p.Glu8Gly |