Linked Data
ClinVar Variation Id:
1167810
ClinVar RCV Id:
RCV001517480
dbSNP Id:
rs142531536
ExAC:
X:53436191 T / G
gnomAD v2:
X-53436191-T-G
gnomAD v3:
X-53409260-T-G
gnomAD v4:
X-53409260-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53409260T>G , CM000685.2:g.53409260T>G | GRCh38 |
| NC_000023.10:g.53436191T>G , CM000685.1:g.53436191T>G | GRCh37 |
| NC_000023.9:g.53452916T>G | NCBI36 |
| NG_006988.2:g.18411A>C , LRG_773:g.18411A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1347A>C MANE Select | ENSP00000323421.3:p.Leu449= | |
| ENST00000674590.1:c.579A>C | ENSP00000502626.1:p.Leu193= | |
| ENST00000675065.1:n.699A>C | ||
| ENST00000675504.1:c.1281A>C | ENSP00000502524.1:p.Leu427= | |
| ENST00000322213.8:c.1347A>C | ENSP00000323421.3:p.Leu449= | |
| ENST00000375340.10:c.1281A>C | ENSP00000364489.7:p.Leu427= | |
| NM_001281463.1:c.1281A>C , LRG_773t1:c.1281A>C | NP_001268392.1:p.Leu427= | |
| NM_006306.3:c.1347A>C , LRG_773t2:c.1347A>C | NP_006297.2:p.Leu449= | |
| NM_006306.4:c.1347A>C MANE Select | NP_006297.2:p.Leu449= |