Linked Data
dbSNP Id:
rs777124514
ExAC:
18:22057153 T / A
gnomAD v2:
18-22057153-T-A
gnomAD v3:
18-24477189-T-A
gnomAD v4:
18-24477189-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477189T>A , CM000680.2:g.24477189T>A | GRCh38 |
| NC_000018.9:g.22057153T>A , CM000680.1:g.22057153T>A | GRCh37 |
| NC_000018.8:g.20311151T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.800T>A MANE Select | ENSP00000256906.4:p.Met267Lys | |
| ENST00000256906.4:c.800T>A | ENSP00000256906.4:p.Met267Lys | |
| ENST00000426880.2:c.536T>A | ENSP00000402526.2:p.Met179Lys | |
| NM_001143828.1:c.536T>A | NP_001137300.1:p.Met179Lys | |
| NM_001160166.1:c.*432T>A | NP_001153638.1:n.*432T>A | |
| NM_021624.3:c.800T>A | NP_067637.2:p.Met267Lys | |
| XM_011526133.1:c.357+8238T>A | XP_011524435.1:n.357+8238T>A | |
| NM_021624.4:c.800T>A MANE Select | NP_067637.2:p.Met267Lys | |
| NM_001143828.2:c.536T>A | NP_001137300.1:p.Met179Lys | |
| NM_001160166.2:c.*432T>A | NP_001153638.1:n.*432T>A |