Linked Data
ClinVar Variation Id:
543103
ClinVar RCV Id:
RCV001513296
dbSNP Id:
rs775459305
ExAC:
X:132888082 A / C
gnomAD v2:
X-132888082-A-C
gnomAD v3:
X-133754055-A-C
gnomAD v4:
X-133754055-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133754055A>C , CM000685.2:g.133754055A>C | GRCh38 |
| NC_000023.10:g.132888082A>C , CM000685.1:g.132888082A>C | GRCh37 |
| NC_000023.9:g.132715748A>C | NCBI36 |
| NG_009286.1:g.236585T>G , LRG_505:g.236585T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684880.1:c.*47T>G | ENSP00000510280.1:n.*47T>G | |
| ENST00000689310.1:c.411T>G | ENSP00000510438.1:p.Ser137= | |
| ENST00000692630.1:n.589T>G | ||
| ENST00000370818.8:c.459T>G MANE Select | ENSP00000359854.3:p.Ser153= | |
| ENST00000394299.7:c.459T>G | ENSP00000377836.2:p.Ser153= | |
| ENST00000370818.7:c.459T>G | ENSP00000359854.3:p.Ser153= | |
| ENST00000394299.6:c.459T>G | ENSP00000377836.2:p.Ser153= | |
| ENST00000631057.2:c.297T>G | ENSP00000486325.1:p.Ser99= | |
| NM_001164617.1:c.459T>G | NP_001158089.1:p.Ser153= | |
| NM_001164618.1:c.411T>G | NP_001158090.1:p.Ser137= | |
| NM_001164619.1:c.297T>G | NP_001158091.1:p.Ser99= | |
| NM_004484.3:c.459T>G , LRG_505t1:c.459T>G | NP_004475.1:p.Ser153= | |
| XM_017029413.2:c.459T>G | XP_016884902.1:p.Ser153= | |
| NM_001164617.2:c.459T>G | NP_001158089.1:p.Ser153= | |
| NM_001164618.2:c.411T>G | NP_001158090.1:p.Ser137= | |
| NM_001164619.2:c.297T>G | NP_001158091.1:p.Ser99= | |
| NM_004484.4:c.459T>G MANE Select | NP_004475.1:p.Ser153= |