Linked Data
ClinVar Variation Id:
2197096
ClinVar RCV Id:
RCV002624684
dbSNP Id:
rs371959653
ExAC:
X:152036235 G / A
gnomAD v2:
X-152036235-G-A
gnomAD v3:
X-152867691-G-A
gnomAD v4:
X-152867691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152867691G>A , CM000685.2:g.152867691G>A | GRCh38 |
| NC_000023.10:g.152036235G>A , CM000685.1:g.152036235G>A | GRCh37 |
| NC_000023.9:g.151786891G>A | NCBI36 |
| NG_009163.1:g.41725G>A | |
| NG_009163.2:g.41725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.789+18G>A MANE Select | ENSP00000359297.3:n.789+18G>A | |
| ENST00000370274.7:c.789+18G>A | ENSP00000359297.3:n.789+18G>A | |
| ENST00000440023.5:c.789+18G>A | ENSP00000391854.1:n.789+18G>A | |
| NM_001129765.1:c.789+18G>A | NP_001123237.1:n.789+18G>A | |
| NM_015922.2:c.789+18G>A | NP_057006.1:n.789+18G>A | |
| XM_011531178.1:c.789+18G>A | XP_011529480.1:n.789+18G>A | |
| XM_011531178.2:c.789+18G>A | XP_011529480.1:n.789+18G>A | |
| XM_017029564.1:c.837+18G>A | XP_016885053.1:n.837+18G>A | |
| NM_015922.3:c.789+18G>A MANE Select | NP_057006.1:n.789+18G>A | |
| NM_001129765.2:c.789+18G>A | NP_001123237.1:n.789+18G>A |