Linked Data
ClinVar Variation Id:
2141935
ClinVar RCV Id:
RCV003058801
dbSNP Id:
rs201500606
ExAC:
X:153135968 G / T
gnomAD v2:
X-153135968-G-T
gnomAD v3:
X-153870513-G-T
gnomAD v4:
X-153870513-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153870513G>T , CM000685.2:g.153870513G>T | GRCh38 |
| NC_000023.10:g.153135968G>T , CM000685.1:g.153135968G>T | GRCh37 |
| NC_000023.9:g.152789162G>T | NCBI36 |
| NG_009645.3:g.43711C>A | |
| NG_009645.4:g.20661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.695-14C>A MANE Select | ENSP00000359077.1:n.695-14C>A | |
| ENST00000361699.8:c.695-14C>A | ENSP00000355380.4:n.695-14C>A | |
| ENST00000361981.7:c.680-14C>A | ENSP00000354712.3:n.680-14C>A | |
| ENST00000370055.5:c.680-14C>A | ENSP00000359072.1:n.680-14C>A | |
| ENST00000370060.5:c.695-14C>A | ENSP00000359077.1:n.695-14C>A | |
| NM_000425.4:c.695-14C>A | NP_000416.1:n.695-14C>A | |
| NM_001143963.2:c.680-14C>A | NP_001137435.1:n.680-14C>A | |
| NM_001278116.1:c.695-14C>A | NP_001265045.1:n.695-14C>A | |
| NM_024003.3:c.695-14C>A | NP_076493.1:n.695-14C>A | |
| NM_000425.5:c.695-14C>A | NP_000416.1:n.695-14C>A | |
| NM_001278116.2:c.695-14C>A MANE Select | NP_001265045.1:n.695-14C>A |