Linked Data
ClinVar Variation Id:
459154
ClinVar RCV Id:
RCV000533942
dbSNP Id:
rs1553177670
gnomAD v3:
1-17027753-T-A
gnomAD v4:
1-17027753-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027753T>A , CM000663.2:g.17027753T>A | GRCh38 |
| NC_000001.10:g.17354248T>A , CM000663.1:g.17354248T>A | GRCh37 |
| NC_000001.9:g.17226835T>A | NCBI36 |
| NG_012340.1:g.31418A>T , LRG_316:g.31418A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.365A>T | ENSP00000481376.2:p.Lys122Ile | |
| ENST00000491274.6:c.494A>T | ENSP00000480482.2:p.Lys165Ile | |
| ENST00000375499.8:c.536A>T MANE Select | ENSP00000364649.3:p.Lys179Ile | |
| ENST00000375499.7:c.536A>T | ENSP00000364649.3:p.Lys179Ile | |
| ENST00000463045.2:c.365A>T | ENSP00000481376.1:p.Lys122Ile | |
| ENST00000475506.1:n.453A>T | ||
| ENST00000485515.5:n.470A>T | ||
| ENST00000491274.5:c.494A>T | ENSP00000480482.1:p.Lys165Ile | |
| NM_003000.2:c.536A>T , LRG_316t1:c.536A>T | NP_002991.2:p.Lys179Ile | |
| NM_003000.3:c.536A>T MANE Select | NP_002991.2:p.Lys179Ile |