Linked Data
ClinVar Variation Id:
1674759
ClinVar RCV Id:
RCV002204451
dbSNP Id:
rs562364308
ExAC:
17:54671968 C / T
gnomAD v2:
17-54671968-C-T
gnomAD v3:
17-56594607-C-T
gnomAD v4:
17-56594607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594607C>T , CM000679.2:g.56594607C>T | GRCh38 |
| NC_000017.10:g.54671968C>T , CM000679.1:g.54671968C>T | GRCh37 |
| NC_000017.9:g.52026967C>T | NCBI36 |
| NG_011958.1:g.5909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.384C>T MANE Select | ENSP00000328181.4:p.Gly128= | |
| ENST00000332822.4:c.384C>T | ENSP00000328181.4:p.Gly128= | |
| NM_005450.4:c.384C>T | NP_005441.1:p.Gly128= | |
| NM_005450.6:c.384C>T MANE Select | NP_005441.1:p.Gly128= |