Linked Data
ClinVar Variation Id:
514291
ClinVar RCV Id:
RCV000606190
dbSNP Id:
rs1333935838
gnomAD v3:
X-154097622-C-T
gnomAD v4:
X-154097622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097622C>T , CM000685.2:g.154097622C>T | GRCh38 |
| NC_000023.10:g.153363079C>T , CM000685.1:g.153363079C>T | GRCh37 |
| NC_000023.9:g.153016273C>T | NCBI36 |
| NG_007107.2:g.44500G>A | |
| NG_007107.3:g.44482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700484.1:n.4G>A | ||
| ENST00000303391.11:c.-117G>A MANE Plus Clinical | ENSP00000301948.6:n.-117G>A | |
| ENST00000453960.7:c.44G>A MANE Select | ENSP00000395535.2:p.Gly15Glu | |
| ENST00000676382.1:n.4G>A | ||
| ENST00000303391.10:c.-117G>A | ENSP00000301948.6:n.-117G>A | |
| ENST00000369957.5:c.-117G>A | ENSP00000358973.4:n.-117G>A | |
| ENST00000407218.5:c.44G>A | ENSP00000384865.2:p.Gly15Glu | |
| ENST00000453960.6:c.44G>A | ENSP00000395535.2:p.Gly15Glu | |
| ENST00000619732.4:c.-117G>A | ENSP00000480973.1:n.-117G>A | |
| ENST00000627864.1:n.59G>A | ||
| ENST00000628176.2:c.-117G>A | ENSP00000486978.1:n.-117G>A | |
| ENST00000631210.1:n.305+7159G>A | ||
| NM_001110792.1:c.44G>A | NP_001104262.1:p.Gly15Glu | |
| NM_001316337.1:c.-564G>A | NP_001303266.1:n.-564G>A | |
| NM_004992.3:c.-117G>A | NP_004983.1:n.-117G>A | |
| XM_005274682.3:c.-508G>A | XP_005274739.1:n.-508G>A | |
| NM_001110792.2:c.44G>A MANE Select | NP_001104262.1:p.Gly15Glu | |
| NM_001316337.2:c.-564G>A | NP_001303266.1:n.-564G>A | |
| NM_001369391.2:c.-859G>A | NP_001356320.1:n.-859G>A | |
| NM_001369392.2:c.-508G>A | NP_001356321.1:n.-508G>A | |
| NM_001369393.2:c.-384G>A | NP_001356322.1:n.-384G>A | |
| NM_001386137.1:c.-789G>A | NP_001373066.1:n.-789G>A | |
| NM_001386138.1:c.-677G>A | NP_001373067.1:n.-677G>A | |
| NM_001386139.1:c.-553G>A | NP_001373068.1:n.-553G>A | |
| NM_004992.4:c.-117G>A MANE Plus Clinical | NP_004983.1:n.-117G>A |