Linked Data
ClinVar Variation Id:
720642
dbSNP Id:
rs36092450
ExAC:
X:100117199 G / A
gnomAD v2:
X-100117199-G-A
gnomAD v3:
X-100862210-G-A
gnomAD v4:
X-100862210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100862210G>A , CM000685.2:g.100862210G>A | GRCh38 |
| NC_000023.10:g.100117199G>A , CM000685.1:g.100117199G>A | GRCh37 |
| NC_000023.9:g.100003855G>A | NCBI36 |
| NG_012567.1:g.17136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372966.8:c.765C>T MANE Select | ENSP00000362057.3:p.Ser255= | |
| ENST00000217885.5:c.765C>T | ENSP00000217885.5:p.Ser255= | |
| ENST00000372960.8:c.654C>T | ENSP00000362051.4:p.Ser218= | |
| ENST00000372964.5:c.476+472C>T | ENSP00000362055.1:n.476+472C>T | |
| ENST00000372966.7:c.765C>T | ENSP00000362057.3:p.Ser255= | |
| NM_001271815.1:c.654C>T | NP_001258744.1:p.Ser218= | |
| NM_007052.4:c.765C>T | NP_008983.2:p.Ser255= | |
| NM_013955.2:c.765C>T | NP_039249.1:p.Ser255= | |
| XM_017029407.2:c.447C>T | XP_016884896.1:p.Ser149= | |
| NM_007052.5:c.765C>T MANE Select | NP_008983.2:p.Ser255= | |
| NM_013955.3:c.765C>T | NP_039249.1:p.Ser255= | |
| NM_001271815.2:c.654C>T | NP_001258744.1:p.Ser218= |