Linked Data
ClinVar Variation Id:
2729785
ClinVar RCV Id:
RCV003513476
dbSNP Id:
rs1400670141
gnomAD v2:
X-53407669-A-G
gnomAD v4:
X-53380748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380748A>G , CM000685.2:g.53380748A>G | GRCh38 |
| NC_000023.10:g.53407669A>G , CM000685.1:g.53407669A>G | GRCh37 |
| NC_000023.9:g.53424394A>G | NCBI36 |
| NG_006988.2:g.46923T>C , LRG_773:g.46923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3508-18T>C MANE Select | ENSP00000323421.3:n.3508-18T>C | |
| ENST00000674590.1:c.2740-18T>C | ENSP00000502626.1:n.2740-18T>C | |
| ENST00000675504.1:c.3442-18T>C | ENSP00000502524.1:n.3442-18T>C | |
| ENST00000322213.8:c.3508-18T>C | ENSP00000323421.3:n.3508-18T>C | |
| ENST00000375340.10:c.3442-18T>C | ENSP00000364489.7:n.3442-18T>C | |
| ENST00000470241.2:c.728-18T>C | ||
| NM_001281463.1:c.3442-18T>C , LRG_773t1:c.3442-18T>C | NP_001268392.1:n.3442-18T>C | |
| NM_006306.3:c.3508-18T>C , LRG_773t2:c.3508-18T>C | NP_006297.2:n.3508-18T>C | |
| NM_006306.4:c.3508-18T>C MANE Select | NP_006297.2:n.3508-18T>C |