Linked Data
dbSNP Id:
rs753955219
ExAC:
5:33951756 A / T
gnomAD v2:
5-33951756-A-T
gnomAD v4:
5-33951651-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951651A>T , CM000667.2:g.33951651A>T | GRCh38 |
| NC_000005.9:g.33951756A>T , CM000667.1:g.33951756A>T | GRCh37 |
| NC_000005.8:g.33987513A>T | NCBI36 |
| NG_011691.2:g.38025T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1059T>A MANE Select | ENSP00000296589.4:p.Ser353Arg | |
| ENST00000296589.8:c.1059T>A | ENSP00000296589.4:p.Ser353Arg | |
| ENST00000382102.7:c.1059T>A | ENSP00000371534.3:p.Ser353Arg | |
| ENST00000509381.1:c.*1T>A | ENSP00000421100.1:n.*1T>A | |
| ENST00000510600.1:c.534T>A | ENSP00000424010.1:p.Ser178Arg | |
| NM_001012509.3:c.1059T>A | NP_001012527.1:p.Ser353Arg | |
| NM_001297417.2:c.*1T>A | NP_001284346.2:n.*1T>A | |
| NM_016180.4:c.1059T>A | NP_057264.3:p.Ser353Arg | |
| XM_011514051.1:c.657T>A | XP_011512353.1:p.Ser219Arg | |
| XR_925620.1:n.1876T>A | ||
| NM_016180.5:c.1059T>A MANE Select | NP_057264.4:p.Ser353Arg | |
| NM_001012509.4:c.1059T>A | NP_001012527.2:p.Ser353Arg | |
| NM_001297417.3:c.*1T>A | NP_001284346.2:n.*1T>A | |
| NM_001297417.4:c.*1T>A | NP_001284346.2:n.*1T>A |