Linked Data
ClinVar Variation Id:
313121
ClinVar RCV Id:
RCV000355012
dbSNP Id:
rs886050476
gnomAD v4:
14-35404724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404724G>A , CM000676.2:g.35404724G>A | GRCh38 |
| NC_000014.8:g.35873930G>A , CM000676.1:g.35873930G>A | GRCh37 |
| NC_000014.7:g.34943681G>A | NCBI36 |
| NG_007571.1:g.5015C>T , LRG_89:g.5015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.-80C>T | ENSP00000451281.2:n.-80C>T | |
| ENST00000557459.2:n.19C>T | ||
| ENST00000697957.1:n.26C>T | ||
| ENST00000697958.1:n.19C>T | ||
| ENST00000697959.1:n.26C>T | ||
| ENST00000697960.1:n.6C>T | ||
| ENST00000697961.1:c.-80C>T | ENSP00000513487.1:n.-80C>T | |
| ENST00000216797.10:c.-80C>T MANE Select | ENSP00000216797.6:n.-80C>T | |
| ENST00000216797.9:c.-80C>T | ENSP00000216797.5:n.-80C>T | |
| ENST00000555629.1:n.26C>T | ||
| ENST00000557140.5:c.-80C>T | ENSP00000451257.1:n.-80C>T | |
| ENST00000557459.1:n.19C>T | ||
| NM_020529.2:c.-80C>T , LRG_89t1:c.-80C>T | NP_065390.1:n.-80C>T | |
| NM_020529.3:c.-80C>T MANE Select | NP_065390.1:n.-80C>T |