Linked Data
ClinVar Variation Id:
2906869
ClinVar RCV Id:
RCV003734378
dbSNP Id:
rs906481751
gnomAD v2:
17-54671986-G-A
gnomAD v4:
17-56594625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594625G>A , CM000679.2:g.56594625G>A | GRCh38 |
| NC_000017.10:g.54671986G>A , CM000679.1:g.54671986G>A | GRCh37 |
| NC_000017.9:g.52026985G>A | NCBI36 |
| NG_011958.1:g.5927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.402G>A MANE Select | ENSP00000328181.4:p.Lys134= | |
| ENST00000332822.4:c.402G>A | ENSP00000328181.4:p.Lys134= | |
| NM_005450.4:c.402G>A | NP_005441.1:p.Lys134= | |
| NM_005450.6:c.402G>A MANE Select | NP_005441.1:p.Lys134= |