Linked Data
ClinVar Variation Id:
778160
ClinVar RCV Id:
RCV000958761
dbSNP Id:
rs73859998
ExAC:
4:152021631 A / T
gnomAD v2:
4-152021631-A-T
gnomAD v3:
4-151100479-A-T
gnomAD v4:
4-151100479-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.151100479A>T , CM000666.2:g.151100479A>T | GRCh38 |
| NC_000004.11:g.152021631A>T , CM000666.1:g.152021631A>T | GRCh37 |
| NC_000004.10:g.152241081A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274065.9:c.63-6A>T MANE Select | ENSP00000346050.3:n.63-6A>T | |
| ENST00000274065.8:c.63-6A>T | ENSP00000346050.3:n.63-6A>T | |
| ENST00000503002.5:c.-49-6A>T | ENSP00000421277.1:n.-49-6A>T | |
| ENST00000505243.5:c.-49-6A>T | ENSP00000425024.1:n.-49-6A>T | |
| ENST00000506126.5:c.-55A>T | ENSP00000426282.1:n.-55A>T | |
| ENST00000507327.5:c.-49-6A>T | ENSP00000424547.1:n.-49-6A>T | |
| ENST00000507485.1:n.88-6A>T | ||
| ENST00000508783.5:c.-49-6A>T | ENSP00000421776.1:n.-49-6A>T | |
| ENST00000509736.5:c.-4+765A>T | ENSP00000422994.1:n.-4+765A>T | |
| ENST00000510993.1:c.3-6A>T | ENSP00000426466.1:n.3-6A>T | |
| ENST00000512690.5:c.63-6A>T | ENSP00000423953.1:n.63-6A>T | |
| ENST00000512797.5:c.48-6A>T | ENSP00000421457.1:n.48-6A>T | |
| ENST00000514682.5:c.-49-6A>T | ENSP00000421770.1:n.-49-6A>T | |
| ENST00000515792.5:c.45-6A>T | ENSP00000425508.1:n.45-6A>T | |
| ENST00000515818.5:c.63-6A>T | ENSP00000425978.1:n.63-6A>T | |
| NM_001006.4:c.63-6A>T | NP_000997.1:n.63-6A>T | |
| NM_001267699.1:c.63-6A>T | NP_001254628.1:n.63-6A>T | |
| NM_001006.5:c.63-6A>T MANE Select | NP_000997.1:n.63-6A>T | |
| NM_001267699.2:c.63-6A>T | NP_001254628.1:n.63-6A>T |