Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919571G>A , CM000679.2:g.74919571G>A | GRCh38 |
| NC_000017.10:g.72915666G>A , CM000679.1:g.72915666G>A | GRCh37 |
| NC_000017.9:g.70427261G>A | NCBI36 |
| NG_007882.1:g.8686C>T | |
| NG_033062.1:g.297G>A | |
| NG_007882.2:g.8693C>T | |
| NG_033062.2:g.297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1265C>T MANE Select | ENSP00000480279.1:p.Ser422Phe | |
| ENST00000579243.1:c.*864C>T | ENSP00000462568.1:n.*864C>T | |
| ENST00000614341.4:c.1265C>T | ENSP00000480279.1:p.Ser422Phe | |
| NM_001282489.2:c.956C>T | NP_001269418.1:p.Ser319Phe | |
| NM_173477.4:c.1265C>T | NP_775748.2:p.Ser422Phe | |
| XM_011524296.1:c.956C>T | XP_011522598.1:p.Ser319Phe | |
| XM_011524296.2:c.956C>T | XP_011522598.1:p.Ser319Phe | |
| NM_173477.5:c.1265C>T MANE Select | NP_775748.2:p.Ser422Phe | |
| NM_001282489.3:c.956C>T | NP_001269418.1:p.Ser319Phe |