Linked Data
ClinVar Variation Id:
1253334
ClinVar RCV Id:
RCV001650796
dbSNP Id:
rs20576
ExAC:
8:23058220 T / G
gnomAD v2:
8-23058220-T-G
gnomAD v3:
8-23200707-T-G
gnomAD v4:
8-23200707-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23200707T>G , CM000670.2:g.23200707T>G | GRCh38 |
| NC_000008.10:g.23058220T>G , CM000670.1:g.23058220T>G | GRCh37 |
| NC_000008.9:g.23114165T>G | NCBI36 |
| NG_032107.1:g.29461A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221132.8:c.683A>C MANE Select | ENSP00000221132.3:p.Glu228Ala | |
| ENST00000221132.7:c.683A>C | ENSP00000221132.3:p.Glu228Ala | |
| ENST00000524158.5:c.77A>C | ENSP00000428884.1:p.Glu26Ala | |
| ENST00000613472.1:c.209A>C | ENSP00000480778.1:p.Glu70Ala | |
| NM_003844.3:c.683A>C | NP_003835.3:p.Glu228Ala | |
| NM_003844.4:c.683A>C MANE Select | NP_003835.3:p.Glu228Ala |