Linked Data
ClinVar Variation Id:
1140671
ClinVar RCV Id:
RCV001477851
dbSNP Id:
rs751526306
ExAC:
15:67358555 C / A
gnomAD v2:
15-67358555-C-A
gnomAD v3:
15-67066217-C-A
gnomAD v4:
15-67066217-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066217C>A , CM000677.2:g.67066217C>A | GRCh38 |
| NC_000015.9:g.67358555C>A , CM000677.1:g.67358555C>A | GRCh37 |
| NC_000015.8:g.65145609C>A | NCBI36 |
| NG_011990.1:g.5361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2273C>A | ENSP00000453082.2:n.-110+2273C>A | |
| ENST00000560424.2:c.63C>A | ENSP00000455540.2:p.Gly21= | |
| ENST00000327367.9:c.63C>A MANE Select | ENSP00000332973.4:p.Gly21= | |
| ENST00000327367.8:c.63C>A | ENSP00000332973.4:p.Gly21= | |
| ENST00000559460.5:c.-110+2273C>A | ENSP00000453082.1:n.-110+2273C>A | |
| NM_005902.3:c.63C>A | NP_005893.1:p.Gly21= | |
| XM_011521559.1:c.63C>A | XP_011519861.1:p.Gly21= | |
| XM_011521559.3:c.63C>A | XP_011519861.1:p.Gly21= | |
| NM_005902.4:c.63C>A MANE Select | NP_005893.1:p.Gly21= |