Linked Data
ClinVar Variation Id:
2785044
ClinVar RCV Id:
RCV003662612
dbSNP Id:
rs1334011171
gnomAD v4:
X-54465609-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465609A>G , CM000685.2:g.54465609A>G | GRCh38 |
| NC_000023.10:g.54492042A>G , CM000685.1:g.54492042A>G | GRCh37 |
| NC_000023.9:g.54508767A>G | NCBI36 |
| NG_008054.1:g.35558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1498-20T>C MANE Select | ENSP00000364277.3:n.1498-20T>C | |
| ENST00000375135.3:c.1498-20T>C | ENSP00000364277.3:n.1498-20T>C | |
| NM_004463.2:c.1498-20T>C | NP_004454.2:n.1498-20T>C | |
| NM_004463.3:c.1498-20T>C MANE Select | NP_004454.2:n.1498-20T>C |