Linked Data
dbSNP Id:
rs1451111173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919552G>T , CM000679.2:g.74919552G>T | GRCh38 |
| NC_000017.10:g.72915647G>T , CM000679.1:g.72915647G>T | GRCh37 |
| NC_000017.9:g.70427242G>T | NCBI36 |
| NG_007882.1:g.8705C>A | |
| NG_033062.1:g.278G>T | |
| NG_007882.2:g.8712C>A | |
| NG_033062.2:g.278G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1284C>A MANE Select | ENSP00000480279.1:p.Ser428Arg | |
| ENST00000579243.1:c.*883C>A | ENSP00000462568.1:n.*883C>A | |
| ENST00000614341.4:c.1284C>A | ENSP00000480279.1:p.Ser428Arg | |
| NM_001282489.2:c.975C>A | NP_001269418.1:p.Ser325Arg | |
| NM_173477.4:c.1284C>A | NP_775748.2:p.Ser428Arg | |
| XM_011524296.1:c.975C>A | XP_011522598.1:p.Ser325Arg | |
| XM_011524296.2:c.975C>A | XP_011522598.1:p.Ser325Arg | |
| NM_173477.5:c.1284C>A MANE Select | NP_775748.2:p.Ser428Arg | |
| NM_001282489.3:c.975C>A | NP_001269418.1:p.Ser325Arg |