Linked Data
ClinVar Variation Id:
302717
ClinVar RCV Id:
RCV000375858
dbSNP Id:
rs886047753
gnomAD v4:
11-119030420-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119030420C>T , CM000673.2:g.119030420C>T | GRCh38 |
| NC_000011.9:g.118901130C>T , CM000673.1:g.118901130C>T | GRCh37 |
| NC_000011.8:g.118406340C>T | NCBI36 |
| NG_013331.1:g.5487G>A , LRG_187:g.5487G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.34+429G>A | ||
| ENST00000697846.1:n.34+429G>A | ||
| ENST00000697847.1:n.34+429G>A | ||
| ENST00000697848.1:n.34+429G>A | ||
| ENST00000697850.1:n.34+429G>A | ||
| ENST00000638360.1:n.42+429G>A | ||
| ENST00000638925.1:n.41+429G>A | ||
| ENST00000330775.9:c.-196+429G>A | ENSP00000476242.2:n.-196+429G>A | |
| ENST00000357590.9:c.-196+128G>A | ENSP00000476176.2:n.-196+128G>A | |
| ENST00000525039.5:n.228+128G>A | ||
| ENST00000525102.5:n.374G>A | ||
| ENST00000527992.5:n.32+429G>A | ||
| ENST00000530407.5:n.24+429G>A | ||
| ENST00000532085.1:n.444G>A | ||
| ENST00000538950.5:c.-345+429G>A | ENSP00000475991.2:n.-345+429G>A | |
| ENST00000545985.5:c.-384G>A | ENSP00000475241.2:n.-384G>A | |
| NM_001164277.1:c.-384G>A , LRG_187t1:c.-384G>A | NP_001157749.1:n.-384G>A | |
| NM_001164278.1:c.-196+128G>A | NP_001157750.1:n.-196+128G>A | |
| NM_001164279.1:c.-345+429G>A | NP_001157751.1:n.-345+429G>A | |
| NM_001467.5:c.-196+429G>A | NP_001458.1:n.-196+429G>A | |
| NM_001164278.2:c.-196+128G>A | NP_001157750.1:n.-196+128G>A | |
| NM_001164279.2:c.-345+429G>A | NP_001157751.1:n.-345+429G>A | |
| NM_001467.6:c.-196+429G>A | NP_001458.1:n.-196+429G>A | |
| NM_001164277.2:c.-384G>A MANE Select | NP_001157749.1:n.-384G>A |