Linked Data
dbSNP Id:
rs746652209
ExAC:
17:7989535 C / A
gnomAD v2:
17-7989535-C-A
gnomAD v3:
17-8086217-C-A
gnomAD v4:
17-8086217-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086217C>A , CM000679.2:g.8086217C>A | GRCh38 |
| NC_000017.10:g.7989535C>A , CM000679.1:g.7989535C>A | GRCh37 |
| NC_000017.9:g.7930260C>A | NCBI36 |
| NG_007099.1:g.6487G>T | |
| NG_007099.2:g.6500G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.151G>T MANE Select | ENSP00000497784.1:p.Gly51Cys | |
| ENST00000319144.4:c.151G>T | ENSP00000315167.4:p.Gly51Cys | |
| NM_001139.2:c.151G>T | NP_001130.1:p.Gly51Cys | |
| NM_001139.3:c.151G>T MANE Select | NP_001130.1:p.Gly51Cys |