Linked Data
ClinVar Variation Id:
2979729
ClinVar RCV Id:
RCV003834839
dbSNP Id:
rs1557090998
gnomAD v2:
X-153132218-G-A
gnomAD v4:
X-153866763-G-A
MyVariant Identifiers:
chrX:g.153132218G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153866763G>A , CM000685.2:g.153866763G>A | GRCh38 |
| NC_000023.10:g.153132218G>A , CM000685.1:g.153132218G>A | GRCh37 |
| NC_000023.9:g.152785412G>A | NCBI36 |
| NG_009645.3:g.47461C>T | |
| NG_009645.4:g.24411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.2317C>T MANE Select | ENSP00000359077.1:p.Leu773= | |
| ENST00000361699.8:c.2317C>T | ENSP00000355380.4:p.Leu773= | |
| ENST00000361981.7:c.2302C>T | ENSP00000354712.3:p.Leu768= | |
| ENST00000370055.5:c.2302C>T | ENSP00000359072.1:p.Leu768= | |
| ENST00000370060.5:c.2317C>T | ENSP00000359077.1:p.Leu773= | |
| NM_000425.4:c.2317C>T | NP_000416.1:p.Leu773= | |
| NM_001143963.2:c.2302C>T | NP_001137435.1:p.Leu768= | |
| NM_001278116.1:c.2317C>T | NP_001265045.1:p.Leu773= | |
| NM_024003.3:c.2317C>T | NP_076493.1:p.Leu773= | |
| NM_000425.5:c.2317C>T | NP_000416.1:p.Leu773= | |
| NM_001278116.2:c.2317C>T MANE Select | NP_001265045.1:p.Leu773= |