Linked Data
dbSNP Id:
rs769462036
ExAC:
17:64224192 T / C
gnomAD v2:
17-64224192-T-C
gnomAD v4:
17-66228074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228074T>C , CM000679.2:g.66228074T>C | GRCh38 |
| NC_000017.10:g.64224192T>C , CM000679.1:g.64224192T>C | GRCh37 |
| NC_000017.9:g.61654654T>C | NCBI36 |
| NG_012045.1:g.6365A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.187A>G MANE Select | ENSP00000205948.6:p.Lys63Glu | |
| ENST00000205948.10:c.187A>G | ENSP00000205948.6:p.Lys63Glu | |
| ENST00000577982.1:c.187A>G | ENSP00000464301.1:p.Lys63Glu | |
| ENST00000581797.5:c.7A>G | ENSP00000463553.1:p.Lys3Glu | |
| NM_000042.2:c.187A>G | NP_000033.2:p.Lys63Glu | |
| NM_000042.3:c.187A>G MANE Select | NP_000033.2:p.Lys63Glu |