Linked Data
dbSNP Id:
rs577543077
ExAC:
18:22057061 A / C
gnomAD v2:
18-22057061-A-C
gnomAD v3:
18-24477097-A-C
gnomAD v4:
18-24477097-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477097A>C , CM000680.2:g.24477097A>C | GRCh38 |
| NC_000018.9:g.22057061A>C , CM000680.1:g.22057061A>C | GRCh37 |
| NC_000018.8:g.20311059A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.708A>C MANE Select | ENSP00000256906.4:p.Arg236Ser | |
| ENST00000256906.4:c.708A>C | ENSP00000256906.4:p.Arg236Ser | |
| ENST00000426880.2:c.444A>C | ENSP00000402526.2:p.Arg148Ser | |
| NM_001143828.1:c.444A>C | NP_001137300.1:p.Arg148Ser | |
| NM_001160166.1:c.*340A>C | NP_001153638.1:n.*340A>C | |
| NM_021624.3:c.708A>C | NP_067637.2:p.Arg236Ser | |
| XM_011526133.1:c.357+8146A>C | XP_011524435.1:n.357+8146A>C | |
| NM_021624.4:c.708A>C MANE Select | NP_067637.2:p.Arg236Ser | |
| NM_001143828.2:c.444A>C | NP_001137300.1:p.Arg148Ser | |
| NM_001160166.2:c.*340A>C | NP_001153638.1:n.*340A>C |