Linked Data
dbSNP Id:
rs757867236
ExAC:
17:54672270 A / G
gnomAD v2:
17-54672270-A-G
gnomAD v4:
17-56594909-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594909A>G , CM000679.2:g.56594909A>G | GRCh38 |
| NC_000017.10:g.54672270A>G , CM000679.1:g.54672270A>G | GRCh37 |
| NC_000017.9:g.52027269A>G | NCBI36 |
| NG_011958.1:g.6211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.686A>G MANE Select | ENSP00000328181.4:p.Lys229Arg | |
| ENST00000332822.4:c.686A>G | ENSP00000328181.4:p.Lys229Arg | |
| NM_005450.4:c.686A>G | NP_005441.1:p.Lys229Arg | |
| NM_005450.6:c.686A>G MANE Select | NP_005441.1:p.Lys229Arg |