Linked Data
ClinVar Variation Id:
1375315
ClinVar RCV Id:
RCV001902403
dbSNP Id:
rs1238364459
gnomAD v3:
7-128844773-G-A
gnomAD v4:
7-128844773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128844773G>A , CM000669.2:g.128844773G>A | GRCh38 |
| NC_000007.13:g.128484827G>A , CM000669.1:g.128484827G>A | GRCh37 |
| NC_000007.12:g.128272063G>A | NCBI36 |
| NG_011807.1:g.19345G>A , LRG_870:g.19345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3308G>A MANE Select | ENSP00000327145.8:p.Cys1103Tyr | |
| ENST00000325888.12:c.3308G>A | ENSP00000327145.8:p.Cys1103Tyr | |
| ENST00000346177.6:c.3308G>A | ENSP00000344002.6:p.Cys1103Tyr | |
| NM_001127487.1:c.3308G>A | NP_001120959.1:p.Cys1103Tyr | |
| NM_001458.4:c.3308G>A , LRG_870t1:c.3308G>A | NP_001449.3:p.Cys1103Tyr | |
| NM_001127487.2:c.3308G>A | NP_001120959.1:p.Cys1103Tyr | |
| NM_001458.5:c.3308G>A MANE Select | NP_001449.3:p.Cys1103Tyr |