Linked Data
ClinVar Variation Id:
513750
ClinVar RCV Id:
RCV000614060
dbSNP Id:
rs782049199
ExAC:
X:100601529 G / A
gnomAD v2:
X-100601529-G-A
gnomAD v4:
X-101346541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346541G>A , CM000685.2:g.101346541G>A | GRCh38 |
| NC_000023.10:g.100601529G>A , CM000685.1:g.100601529G>A | GRCh37 |
| NC_000023.9:g.100488185G>A | NCBI36 |
| NG_011734.1:g.7429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.252C>T MANE Select | ENSP00000361993.3:p.Thr84= | |
| ENST00000644112.2:c.*1846C>T | ENSP00000494385.1:n.*1846C>T | |
| ENST00000645279.1:c.*446C>T | ENSP00000494239.1:n.*446C>T | |
| ENST00000647480.1:n.769C>T | ||
| ENST00000372902.3:c.252C>T | ENSP00000361993.3:p.Thr84= | |
| NM_004085.3:c.252C>T | NP_004076.1:p.Thr84= | |
| NM_004085.4:c.252C>T MANE Select | NP_004076.1:p.Thr84= | |
| NM_001145951.2:c.*1846C>T | NP_001139423.1:n.*1846C>T |