Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129189248A>C , CM000669.2:g.129189248A>C | GRCh38 |
| NC_000007.13:g.128829089A>C , CM000669.1:g.128829089A>C | GRCh37 |
| NC_000007.12:g.128616325A>C | NCBI36 |
| NG_023340.1:g.5377A>C | |
| NG_023340.2:g.5377A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.97A>C MANE Select | ENSP00000249373.3:p.Ser33Arg | |
| ENST00000655644.1:c.97A>C | ENSP00000499377.1:p.Ser33Arg | |
| ENST00000249373.7:c.97A>C | ENSP00000249373.3:p.Ser33Arg | |
| NM_005631.4:c.97A>C | NP_005622.1:p.Ser33Arg | |
| NM_005631.5:c.97A>C MANE Select | NP_005622.1:p.Ser33Arg |