Linked Data
ClinVar Variation Id:
1594028
ClinVar RCV Id:
RCV002105394
dbSNP Id:
rs1295612892
gnomAD v3:
X-153693993-G-A
gnomAD v4:
X-153693993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693993G>A , CM000685.2:g.153693993G>A | GRCh38 |
| NC_000023.10:g.152959448G>A , CM000685.1:g.152959448G>A | GRCh37 |
| NC_000023.9:g.152612642G>A | NCBI36 |
| NG_012016.1:g.10697G>A | |
| NG_012016.2:g.10697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1230G>A MANE Select | ENSP00000253122.5:p.Leu410= | |
| ENST00000253122.9:c.1230G>A | ENSP00000253122.5:p.Leu410= | |
| ENST00000413787.1:c.258-211G>A | ENSP00000400463.1:n.258-211G>A | |
| ENST00000430077.6:c.885G>A | ENSP00000403041.2:p.Leu295= | |
| ENST00000442457.1:c.284G>A | ||
| ENST00000457723.1:c.214G>A | ENSP00000394742.1:p.Val72Ile | |
| ENST00000485324.1:n.1263G>A | ||
| NM_001142805.1:c.1200G>A | NP_001136277.1:p.Leu400= | |
| NM_001142806.1:c.885G>A | NP_001136278.1:p.Leu295= | |
| NM_005629.3:c.1230G>A | NP_005620.1:p.Leu410= | |
| NM_005629.4:c.1230G>A MANE Select | NP_005620.1:p.Leu410= | |
| NM_001142805.2:c.1200G>A | NP_001136277.1:p.Leu400= |