Linked Data
ClinVar Variation Id:
408131
ClinVar RCV Id:
RCV000461878
dbSNP Id:
rs1060501862
gnomAD v4:
9-35076970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35076970C>T , CM000671.2:g.35076970C>T | GRCh38 |
| NC_000009.11:g.35076967C>T , CM000671.1:g.35076967C>T | GRCh37 |
| NC_000009.10:g.35066967C>T | NCBI36 |
| NG_007312.1:g.8047G>A , LRG_499:g.8047G>A | |
| NG_007887.1:g.773G>A , LRG_657:g.773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.777+1G>A | ENSP00000409607.2:n.777+1G>A | |
| ENST00000461149.2:n.1994+1G>A | ||
| ENST00000696700.1:n.2029+1G>A | ||
| ENST00000696701.1:n.881+1G>A | ||
| ENST00000696702.1:c.*253+1G>A | ENSP00000512821.1:n.*253+1G>A | |
| ENST00000696703.1:c.*253+1G>A | ENSP00000512822.1:n.*253+1G>A | |
| ENST00000696706.1:n.840+1G>A | ||
| ENST00000696707.1:n.994+1G>A | ||
| ENST00000696708.1:c.*123-100G>A | ENSP00000512825.1:n.*123-100G>A | |
| ENST00000696709.1:n.1179+1G>A | ||
| ENST00000696710.1:c.777+1G>A | ENSP00000512826.1:n.777+1G>A | |
| ENST00000696711.1:n.2127G>A | ||
| ENST00000696712.1:n.864+1G>A | ||
| ENST00000696713.1:c.777+1G>A | ENSP00000512827.1:n.777+1G>A | |
| ENST00000696714.1:n.1253+1G>A | ||
| ENST00000696715.1:c.777+1G>A | ENSP00000512828.1:n.777+1G>A | |
| ENST00000378643.8:c.777+1G>A MANE Select | ENSP00000367910.4:n.777+1G>A | |
| ENST00000378643.7:c.777+1G>A | ENSP00000367910.3:n.777+1G>A | |
| ENST00000425676.5:c.*253+1G>A | ENSP00000412793.1:n.*253+1G>A | |
| NM_004629.1:c.777+1G>A , LRG_499t1:c.777+1G>A | NP_004620.1:n.777+1G>A | |
| NM_004629.2:c.777+1G>A MANE Select | NP_004620.1:n.777+1G>A |