Linked Data
ClinVar Variation Id:
2619015
ClinVar RCV Id:
RCV003377012
dbSNP Id:
rs1219046769
gnomAD v3:
17-15999919-G-A
gnomAD v4:
17-15999919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999919G>A , CM000679.2:g.15999919G>A | GRCh38 |
| NC_000017.10:g.15903233G>A , CM000679.1:g.15903233G>A | GRCh37 |
| NC_000017.9:g.15843958G>A | NCBI36 |
| NG_029806.1:g.5540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.71G>A MANE Select | ENSP00000261647.5:p.Cys24Tyr | |
| ENST00000261647.9:c.71G>A | ENSP00000261647.5:p.Cys24Tyr | |
| ENST00000466729.5:c.136G>A | ||
| ENST00000470399.1:c.86G>A | ENSP00000465082.1:p.Cys29Tyr | |
| ENST00000475723.5:c.118G>A | ||
| ENST00000497842.6:n.96G>A | ||
| ENST00000583704.1:n.96G>A | ||
| NM_001271420.1:c.-388G>A | NP_001258349.1:n.-388G>A | |
| NM_017775.3:c.71G>A | NP_060245.3:p.Cys24Tyr | |
| XM_011523950.1:c.71G>A | XP_011522252.1:p.Cys24Tyr | |
| XM_017024801.2:c.71G>A | XP_016880290.2:p.Cys24Tyr | |
| XM_017024802.2:c.71G>A | XP_016880291.2:p.Cys24Tyr | |
| XM_024450814.1:c.71G>A | XP_024306582.1:p.Cys24Tyr | |
| NM_017775.4:c.71G>A MANE Select | NP_060245.3:p.Cys24Tyr | |
| NM_001271420.2:c.-388G>A | NP_001258349.1:n.-388G>A |