Linked Data
ClinVar Variation Id:
1150849
ClinVar RCV Id:
RCV001491599
dbSNP Id:
rs781977704
ExAC:
X:53407983 G / A
gnomAD v2:
X-53407983-G-A
gnomAD v3:
X-53381062-G-A
gnomAD v4:
X-53381062-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53381062G>A , CM000685.2:g.53381062G>A | GRCh38 |
| NC_000023.10:g.53407983G>A , CM000685.1:g.53407983G>A | GRCh37 |
| NC_000023.9:g.53424708G>A | NCBI36 |
| NG_006988.2:g.46609C>T , LRG_773:g.46609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3463C>T MANE Select | ENSP00000323421.3:p.Leu1155= | |
| ENST00000674590.1:c.2695C>T | ENSP00000502626.1:p.Leu899= | |
| ENST00000675504.1:c.3397C>T | ENSP00000502524.1:p.Leu1133= | |
| ENST00000322213.8:c.3463C>T | ENSP00000323421.3:p.Leu1155= | |
| ENST00000375340.10:c.3397C>T | ENSP00000364489.7:p.Leu1133= | |
| ENST00000470241.2:c.728-332C>T | ||
| NM_001281463.1:c.3397C>T , LRG_773t1:c.3397C>T | NP_001268392.1:p.Leu1133= | |
| NM_006306.3:c.3463C>T , LRG_773t2:c.3463C>T | NP_006297.2:p.Leu1155= | |
| NM_006306.4:c.3463C>T MANE Select | NP_006297.2:p.Leu1155= |