Linked Data
ClinVar Variation Id:
533087
ClinVar RCV Id:
RCV000640091
dbSNP Id:
rs1322717095
gnomAD v2:
2-87016773-C-T
gnomAD v4:
2-86789650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86789650C>T , CM000664.2:g.86789650C>T | GRCh38 |
| NC_000002.11:g.87016773C>T , CM000664.1:g.87016773C>T | GRCh37 |
| NC_000002.10:g.86870284C>T | NCBI36 |
| NG_011608.2:g.23747G>A , LRG_44:g.23747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699436.1:n.983G>A | ||
| ENST00000699437.1:n.343-1090G>A | ||
| ENST00000699439.1:c.504G>A | ENSP00000514390.1:p.Ala168= | |
| ENST00000283635.8:c.504G>A MANE Select | ENSP00000283635.3:p.Ala168= | |
| ENST00000283635.7:c.504G>A | ENSP00000283635.3:p.Ala168= | |
| ENST00000352580.7:c.504G>A | ENSP00000321631.3:p.Ala168= | |
| ENST00000409511.6:c.504G>A | ENSP00000386559.2:p.Ala168= | |
| ENST00000409781.1:c.404-217G>A | ENSP00000387314.1:n.404-217G>A | |
| NM_001145873.1:c.504G>A | NP_001139345.1:p.Ala168= | |
| NM_001768.6:c.504G>A , LRG_44t1:c.504G>A | NP_001759.3:p.Ala168= | |
| NM_171827.3:c.504G>A | NP_741969.1:p.Ala168= | |
| NR_027353.1:n.979G>A | ||
| NM_001382698.1:c.504G>A | NP_001369627.1:p.Ala168= | |
| NM_001768.7:c.504G>A MANE Select | NP_001759.3:p.Ala168= | |
| NM_171827.4:c.504G>A | NP_741969.1:p.Ala168= | |
| NR_027353.2:n.945G>A | ||
| NR_168478.1:n.2088G>A | ||
| NR_168479.1:n.744-3679G>A | ||
| NR_168480.1:n.1934G>A | ||
| NR_168481.1:n.744-1090G>A |