Linked Data
ClinVar Variation Id:
476653
ClinVar RCV Id:
RCV001496607
dbSNP Id:
rs755510528
ExAC:
X:133087165 T / C
gnomAD v4:
X-133953138-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133953138T>C , CM000685.2:g.133953138T>C | GRCh38 |
| NC_000023.10:g.133087165T>C , CM000685.1:g.133087165T>C | GRCh37 |
| NC_000023.9:g.132914831T>C | NCBI36 |
| NG_009286.1:g.37502A>G , LRG_505:g.37502A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684880.1:c.249A>G | ENSP00000510280.1:p.Leu83= | |
| ENST00000689310.1:c.249A>G | ENSP00000510438.1:p.Leu83= | |
| ENST00000692630.1:n.379A>G | ||
| ENST00000370818.8:c.249A>G MANE Select | ENSP00000359854.3:p.Leu83= | |
| ENST00000394299.7:c.249A>G | ENSP00000377836.2:p.Leu83= | |
| ENST00000370818.7:c.249A>G | ENSP00000359854.3:p.Leu83= | |
| ENST00000394299.6:c.249A>G | ENSP00000377836.2:p.Leu83= | |
| ENST00000631057.2:c.175+32137A>G | ENSP00000486325.1:n.175+32137A>G | |
| NM_001164617.1:c.249A>G | NP_001158089.1:p.Leu83= | |
| NM_001164618.1:c.249A>G | NP_001158090.1:p.Leu83= | |
| NM_001164619.1:c.175+32137A>G | NP_001158091.1:n.175+32137A>G | |
| NM_004484.3:c.249A>G , LRG_505t1:c.249A>G | NP_004475.1:p.Leu83= | |
| XM_017029413.2:c.249A>G | XP_016884902.1:p.Leu83= | |
| NM_001164617.2:c.249A>G | NP_001158089.1:p.Leu83= | |
| NM_001164618.2:c.249A>G | NP_001158090.1:p.Leu83= | |
| NM_001164619.2:c.175+32137A>G | NP_001158091.1:n.175+32137A>G | |
| NM_004484.4:c.249A>G MANE Select | NP_004475.1:p.Leu83= |