Linked Data
ClinVar Variation Id:
1980375
ClinVar RCV Id:
RCV002761287
dbSNP Id:
rs771481703
ExAC:
X:73641919 G / T
gnomAD v2:
X-73641919-G-T
gnomAD v3:
X-74422084-G-T
gnomAD v4:
X-74422084-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422084G>T , CM000685.2:g.74422084G>T | GRCh38 |
| NC_000023.10:g.73641919G>T , CM000685.1:g.73641919G>T | GRCh37 |
| NC_000023.9:g.73558644G>T | NCBI36 |
| NG_011641.1:g.5835G>T | |
| NG_011641.2:g.5835G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.430+17G>T MANE Select | ENSP00000465734.1:n.430+17G>T | |
| ENST00000636771.1:c.176+17G>T | ||
| ENST00000587091.5:c.430+17G>T | ENSP00000465734.1:n.430+17G>T | |
| NM_006517.4:c.430+17G>T | NP_006508.2:n.430+17G>T | |
| XM_005262294.1:c.430+17G>T | XP_005262351.1:n.430+17G>T | |
| XM_011531015.1:c.430+17G>T | XP_011529317.1:n.430+17G>T | |
| NM_006517.5:c.430+17G>T MANE Select | NP_006508.2:n.430+17G>T |