Linked Data
ClinVar Variation Id:
387612
ClinVar RCV Id:
RCV000440388
dbSNP Id:
rs1057522838
gnomAD v2:
X-119576526-A-G
gnomAD v4:
X-120442671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120442671A>G , CM000685.2:g.120442671A>G | GRCh38 |
| NC_000023.10:g.119576526A>G , CM000685.1:g.119576526A>G | GRCh37 |
| NC_000023.9:g.119460554A>G | NCBI36 |
| NG_007995.1:g.31679T>C , LRG_749:g.31679T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.865-9T>C | ENSP00000516464.1:n.865-9T>C | |
| ENST00000200639.9:c.865-9T>C MANE Select | ENSP00000200639.4:n.865-9T>C | |
| ENST00000200639.8:c.865-9T>C | ENSP00000200639.4:n.865-9T>C | |
| ENST00000371335.4:c.865-9T>C | ENSP00000360386.4:n.865-9T>C | |
| ENST00000434600.6:c.865-9T>C | ENSP00000408411.2:n.865-9T>C | |
| ENST00000486593.5:c.408-9T>C | ||
| NM_001122606.1:c.865-9T>C , LRG_749t3:c.865-9T>C | NP_001116078.1:n.865-9T>C | |
| NM_002294.2:c.865-9T>C , LRG_749t1:c.865-9T>C | NP_002285.1:n.865-9T>C | |
| NM_013995.2:c.865-9T>C , LRG_749t2:c.865-9T>C | NP_054701.1:n.865-9T>C | |
| NM_002294.3:c.865-9T>C MANE Select | NP_002285.1:n.865-9T>C |