Linked Data
ClinVar Variation Id:
646738
ClinVar RCV Id:
RCV000801086
dbSNP Id:
rs781875210
ExAC:
X:153363113 C / T
gnomAD v2:
X-153363113-C-T
gnomAD v4:
X-154097656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097656C>T , CM000685.2:g.154097656C>T | GRCh38 |
| NC_000023.10:g.153363113C>T , CM000685.1:g.153363113C>T | GRCh37 |
| NC_000023.9:g.153016307C>T | NCBI36 |
| NG_007107.2:g.44466G>A | |
| NG_007107.3:g.44448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.-151G>A MANE Plus Clinical | ENSP00000301948.6:n.-151G>A | |
| ENST00000453960.7:c.10G>A MANE Select | ENSP00000395535.2:p.Ala4Thr | |
| ENST00000303391.10:c.-151G>A | ENSP00000301948.6:n.-151G>A | |
| ENST00000369957.5:c.-151G>A | ENSP00000358973.4:n.-151G>A | |
| ENST00000407218.5:c.10G>A | ENSP00000384865.2:p.Ala4Thr | |
| ENST00000453960.6:c.10G>A | ENSP00000395535.2:p.Ala4Thr | |
| ENST00000619732.4:c.-151G>A | ENSP00000480973.1:n.-151G>A | |
| ENST00000627864.1:n.25G>A | ||
| ENST00000628176.2:c.-151G>A | ENSP00000486978.1:n.-151G>A | |
| ENST00000631210.1:n.305+7125G>A | ||
| NM_001110792.1:c.10G>A | NP_001104262.1:p.Ala4Thr | |
| NM_001316337.1:c.-598G>A | NP_001303266.1:n.-598G>A | |
| NM_004992.3:c.-151G>A | NP_004983.1:n.-151G>A | |
| XM_005274682.3:c.-542G>A | XP_005274739.1:n.-542G>A | |
| NM_001110792.2:c.10G>A MANE Select | NP_001104262.1:p.Ala4Thr | |
| NM_001316337.2:c.-598G>A | NP_001303266.1:n.-598G>A | |
| NM_001369391.2:c.-893G>A | NP_001356320.1:n.-893G>A | |
| NM_001369392.2:c.-542G>A | NP_001356321.1:n.-542G>A | |
| NM_001369393.2:c.-418G>A | NP_001356322.1:n.-418G>A | |
| NM_001386137.1:c.-823G>A | NP_001373066.1:n.-823G>A | |
| NM_001386138.1:c.-711G>A | NP_001373067.1:n.-711G>A | |
| NM_001386139.1:c.-587G>A | NP_001373068.1:n.-587G>A | |
| NM_004992.4:c.-151G>A MANE Plus Clinical | NP_004983.1:n.-151G>A |