Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014018A>G , CM000663.2:g.1014018A>G | GRCh38 |
| NC_000001.10:g.949398A>G , CM000663.1:g.949398A>G | GRCh37 |
| NC_000001.9:g.939261A>G | NCBI36 |
| NG_033033.1:g.5552A>G | |
| NG_033033.2:g.17881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.14A>G | ENSP00000485643.1:p.Asn5Ser | |
| ENST00000649529.1:c.38A>G MANE Select | ENSP00000496832.1:p.Asn13Ser | |
| ENST00000379389.4:c.38A>G | ENSP00000368699.4:p.Asn13Ser | |
| ENST00000624652.1:c.14A>G | ENSP00000485313.1:p.Asn5Ser | |
| ENST00000624697.3:c.14A>G | ENSP00000485643.1:p.Asn5Ser | |
| NM_005101.3:c.38A>G | NP_005092.1:p.Asn13Ser | |
| NM_005101.4:c.38A>G MANE Select | NP_005092.1:p.Asn13Ser |