Linked Data
dbSNP Id:
rs993400346
gnomAD v2:
1-236039927-C-T
gnomAD v3:
1-235876627-C-T
gnomAD v4:
1-235876627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235876627C>T , CM000663.2:g.235876627C>T | GRCh38 |
| NC_000001.10:g.236039927C>T , CM000663.1:g.236039927C>T | GRCh37 |
| NC_000001.9:g.234106550C>T | NCBI36 |
| NG_007397.1:g.12014G>A , LRG_143:g.12014G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697178.1:c.-98+6560G>A | ENSP00000513163.1:n.-98+6560G>A | |
| ENST00000697181.1:c.-98+6560G>A | ENSP00000513168.1:n.-98+6560G>A | |
| ENST00000697182.1:c.-98+6560G>A | ENSP00000513169.1:n.-98+6560G>A | |
| ENST00000697185.1:n.475-3598G>A | ||
| ENST00000697186.1:n.527-3602G>A | ||
| ENST00000697248.1:n.528-3598G>A | ||
| ENST00000697249.1:n.215-3602G>A | ||
| ENST00000465349.5:n.454+6560G>A | ||
| ENST00000468107.5:n.430+6560G>A | ||
| ENST00000489585.5:n.454+6560G>A | ||
| NM_001301365.1:c.-98+6560G>A , LRG_143t2:c.-98+6560G>A | NP_001288294.1:n.-98+6560G>A | |
| NR_102436.2:n.522+6560G>A | ||
| XM_011544032.1:c.-98+6560G>A | XP_011542334.1:n.-98+6560G>A | |
| NR_102436.3:n.527+6560G>A |