Linked Data
ClinVar Variation Id:
1049150
ClinVar RCV Id:
RCV001354876
dbSNP Id:
rs765169539
gnomAD v2:
17-39768766-C-A
gnomAD v3:
17-41612514-C-A
gnomAD v4:
17-41612514-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612514C>A , CM000679.2:g.41612514C>A | GRCh38 |
| NC_000017.10:g.39768766C>A , CM000679.1:g.39768766C>A | GRCh37 |
| NC_000017.9:g.37022292C>A | NCBI36 |
| NG_008301.1:g.5314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.175G>T MANE Select | ENSP00000301653.3:p.Gly59Trp | |
| ENST00000301653.8:c.175G>T | ENSP00000301653.3:p.Gly59Trp | |
| ENST00000588319.1:n.252G>T | ||
| ENST00000593067.1:c.-312-228G>T | ENSP00000467124.1:n.-312-228G>T | |
| NM_005557.3:c.175G>T | NP_005548.2:p.Gly59Trp | |
| NM_005557.4:c.175G>T MANE Select | NP_005548.2:p.Gly59Trp |