Linked Data
ClinVar Variation Id:
1488103
ClinVar RCV Id:
RCV002009073
dbSNP Id:
rs780392632
ExAC:
X:41307157 G / T
gnomAD v2:
X-41307157-G-T
gnomAD v4:
X-41447904-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41447904G>T , CM000685.2:g.41447904G>T | GRCh38 |
| NC_000023.10:g.41307157G>T , CM000685.1:g.41307157G>T | GRCh37 |
| NC_000023.9:g.41192101G>T | NCBI36 |
| NG_009112.1:g.5445G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.-1G>T | ENSP00000340328.3:n.-1G>T | |
| ENST00000378220.3:c.-1G>T MANE Select | ENSP00000367465.2:n.-1G>T | |
| ENST00000378220.2:c.15G>T | ENSP00000367465.1:p.Gly5= | |
| ENST00000342595.2:c.15G>T | ENSP00000340328.2:p.Gly5= | |
| ENST00000378220.1:c.15G>T | ENSP00000367465.1:p.Gly5= | |
| NM_022567.2:c.15G>T | NP_072089.1:p.Gly5= | |
| XM_005272632.2:c.15G>T | XP_005272689.1:p.Gly5= | |
| XM_017029709.1:c.15G>T | XP_016885198.1:p.Gly5= | |
| NM_001378477.3:c.-1G>T MANE Select | NP_001365406.2:n.-1G>T | |
| NM_022567.3:c.-1G>T | NP_072089.2:n.-1G>T |