Linked Data
dbSNP Id:
rs767034484
ExAC:
10:69991315 G / A
gnomAD v3:
10-68231558-G-A
gnomAD v4:
10-68231558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231558G>A , CM000672.2:g.68231558G>A | GRCh38 |
| NC_000010.10:g.69991315G>A , CM000672.1:g.69991315G>A | GRCh37 |
| NC_000010.9:g.69661321G>A | NCBI36 |
| NG_031934.1:g.5556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.120C>T MANE Select | ENSP00000362777.3:p.Arg40= | |
| ENST00000373673.4:c.120C>T | ENSP00000362777.3:p.Arg40= | |
| NM_145178.3:c.120C>T | NP_660161.1:p.Arg40= | |
| NM_145178.4:c.120C>T MANE Select | NP_660161.1:p.Arg40= |