Linked Data
dbSNP Id:
rs775677397
ExAC:
18:22057159 G / A
gnomAD v2:
18-22057159-G-A
gnomAD v3:
18-24477195-G-A
gnomAD v4:
18-24477195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477195G>A , CM000680.2:g.24477195G>A | GRCh38 |
| NC_000018.9:g.22057159G>A , CM000680.1:g.22057159G>A | GRCh37 |
| NC_000018.8:g.20311157G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.806G>A MANE Select | ENSP00000256906.4:p.Ser269Asn | |
| ENST00000256906.4:c.806G>A | ENSP00000256906.4:p.Ser269Asn | |
| ENST00000426880.2:c.542G>A | ENSP00000402526.2:p.Ser181Asn | |
| NM_001143828.1:c.542G>A | NP_001137300.1:p.Ser181Asn | |
| NM_001160166.1:c.*438G>A | NP_001153638.1:n.*438G>A | |
| NM_021624.3:c.806G>A | NP_067637.2:p.Ser269Asn | |
| XM_011526133.1:c.357+8244G>A | XP_011524435.1:n.357+8244G>A | |
| NM_021624.4:c.806G>A MANE Select | NP_067637.2:p.Ser269Asn | |
| NM_001143828.2:c.542G>A | NP_001137300.1:p.Ser181Asn | |
| NM_001160166.2:c.*438G>A | NP_001153638.1:n.*438G>A |