Linked Data
ClinVar Variation Id:
760426
ClinVar RCV Id:
RCV001468060
dbSNP Id:
rs775413235
ExAC:
X:119760806 A / G
gnomAD v2:
X-119760806-A-G
gnomAD v3:
X-120626951-A-G
gnomAD v4:
X-120626951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120626951A>G , CM000685.2:g.120626951A>G | GRCh38 |
| NC_000023.10:g.119760806A>G , CM000685.1:g.119760806A>G | GRCh37 |
| NC_000023.9:g.119644834A>G | NCBI36 |
| NG_016219.1:g.8200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.216T>C MANE Select | ENSP00000304364.5:p.Ile72= | |
| ENST00000304661.5:c.216T>C | ENSP00000304364.5:p.Ile72= | |
| ENST00000371313.2:c.216T>C | ENSP00000360363.2:p.Ile72= | |
| NM_001011551.2:c.216T>C | NP_001011551.1:p.Ile72= | |
| NM_152692.4:c.216T>C | NP_689905.1:p.Ile72= | |
| NM_001011551.3:c.216T>C MANE Select | NP_001011551.1:p.Ile72= | |
| NM_152692.5:c.216T>C | NP_689905.1:p.Ile72= |