Linked Data
ClinVar Variation Id:
2715073
ClinVar RCV Id:
RCV003553122
dbSNP Id:
rs751737129
ExAC:
X:40996059 G / A
gnomAD v2:
X-40996059-G-A
gnomAD v3:
X-41136806-G-A
gnomAD v4:
X-41136806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41136806G>A , CM000685.2:g.41136806G>A | GRCh38 |
| NC_000023.10:g.40996059G>A , CM000685.1:g.40996059G>A | GRCh37 |
| NC_000023.9:g.40881003G>A | NCBI36 |
| NG_012547.1:g.56172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703986.1:c.438G>A | ENSP00000515603.1:p.Arg146= | |
| ENST00000703987.1:c.438G>A | ENSP00000515604.1:p.Arg146= | |
| ENST00000704649.1:c.438G>A | ENSP00000515974.1:p.Arg146= | |
| ENST00000704650.1:c.438G>A | ENSP00000515975.1:p.Arg146= | |
| ENST00000704651.1:c.438G>A | ENSP00000515976.1:p.Arg146= | |
| ENST00000324545.9:c.438G>A | ENSP00000316357.6:p.Arg146= | |
| ENST00000378308.7:c.438G>A MANE Select | ENSP00000367558.2:p.Arg146= | |
| ENST00000324545.8:c.438G>A | ENSP00000316357.6:p.Arg146= | |
| ENST00000378308.6:c.438G>A | ENSP00000367558.2:p.Arg146= | |
| NM_001039590.2:c.438G>A | NP_001034679.2:p.Arg146= | |
| NM_001039591.2:c.438G>A | NP_001034680.2:p.Arg146= | |
| XM_005272675.3:c.438G>A | XP_005272732.1:p.Arg146= | |
| XM_005272676.3:c.438G>A | XP_005272733.1:p.Arg146= | |
| XM_005272675.4:c.438G>A | XP_005272732.1:p.Arg146= | |
| XM_005272676.4:c.438G>A | XP_005272733.1:p.Arg146= | |
| NM_001039591.3:c.438G>A MANE Select | NP_001034680.2:p.Arg146= | |
| NM_001039590.3:c.438G>A | NP_001034679.2:p.Arg146= |