Linked Data
dbSNP Id:
rs773223791
ExAC:
18:22057197 T / C
gnomAD v2:
18-22057197-T-C
gnomAD v4:
18-24477233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477233T>C , CM000680.2:g.24477233T>C | GRCh38 |
| NC_000018.9:g.22057197T>C , CM000680.1:g.22057197T>C | GRCh37 |
| NC_000018.8:g.20311195T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.844T>C MANE Select | ENSP00000256906.4:p.Ser282Pro | |
| ENST00000256906.4:c.844T>C | ENSP00000256906.4:p.Ser282Pro | |
| ENST00000426880.2:c.580T>C | ENSP00000402526.2:p.Ser194Pro | |
| NM_001143828.1:c.580T>C | NP_001137300.1:p.Ser194Pro | |
| NM_001160166.1:c.*476T>C | NP_001153638.1:n.*476T>C | |
| NM_021624.3:c.844T>C | NP_067637.2:p.Ser282Pro | |
| XM_011526133.1:c.357+8282T>C | XP_011524435.1:n.357+8282T>C | |
| NM_021624.4:c.844T>C MANE Select | NP_067637.2:p.Ser282Pro | |
| NM_001143828.2:c.580T>C | NP_001137300.1:p.Ser194Pro | |
| NM_001160166.2:c.*476T>C | NP_001153638.1:n.*476T>C |