Linked Data
ClinVar Variation Id:
1342113
ClinVar RCV Id:
RCV001837703
dbSNP Id:
rs2146948432
gnomAD v4:
X-21978962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21978962A>G , CM000685.2:g.21978962A>G | GRCh38 |
| NC_000023.10:g.21997080A>G , CM000685.1:g.21997080A>G | GRCh37 |
| NC_000023.9:g.21907001A>G | NCBI36 |
| NG_009228.1:g.43239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404933.7:c.746A>G MANE Select | ENSP00000385746.2:p.Tyr249Cys | |
| ENST00000379404.5:c.587A>G | ENSP00000368714.1:p.Tyr196Cys | |
| ENST00000404933.6:c.746A>G | ENSP00000385746.2:p.Tyr249Cys | |
| NM_001258423.1:c.587A>G | NP_001245352.1:p.Tyr196Cys | |
| NM_004595.4:c.746A>G | NP_004586.2:p.Tyr249Cys | |
| XM_005274582.1:c.644A>G | XP_005274639.1:p.Tyr215Cys | |
| XM_011545568.1:c.644A>G | XP_011543870.1:p.Tyr215Cys | |
| XM_005274582.2:c.644A>G | XP_005274639.1:p.Tyr215Cys | |
| XM_011545568.2:c.644A>G | XP_011543870.1:p.Tyr215Cys | |
| XM_017029753.2:c.746A>G | XP_016885242.1:p.Tyr249Cys | |
| XM_017029754.1:c.644A>G | XP_016885243.1:p.Tyr215Cys | |
| XM_017029755.1:c.644A>G | XP_016885244.1:p.Tyr215Cys | |
| XM_024452427.1:c.644A>G | XP_024308195.1:p.Tyr215Cys | |
| NM_004595.5:c.746A>G MANE Select | NP_004586.2:p.Tyr249Cys | |
| NM_001258423.2:c.587A>G | NP_001245352.1:p.Tyr196Cys |