Linked Data
ClinVar Variation Id:
2698400
ClinVar RCV Id:
RCV003512370
dbSNP Id:
rs782445495
ExAC:
X:153008475 G / C
gnomAD v2:
X-153008475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743021G>C , CM000685.2:g.153743021G>C | GRCh38 |
| NC_000023.10:g.153008475G>C , CM000685.1:g.153008475G>C | GRCh37 |
| NC_000023.9:g.152661669G>C | NCBI36 |
| NG_009022.2:g.23154G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1815G>C MANE Select | ENSP00000218104.3:p.Leu605= | |
| ENST00000218104.5:c.1815G>C | ENSP00000218104.3:p.Leu605= | |
| NM_000033.3:c.1815G>C | NP_000024.2:p.Leu605= | |
| XR_938507.1:n.2287G>C | ||
| XR_938507.2:n.2287G>C | ||
| NM_000033.4:c.1815G>C MANE Select | NP_000024.2:p.Leu605= |