Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49994992C>T , CM000679.2:g.49994992C>T | GRCh38 |
| NC_000017.10:g.48072356C>T , CM000679.1:g.48072356C>T | GRCh37 |
| NC_000017.9:g.45427355C>T | NCBI36 |
| NG_023063.1:g.5233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.7G>A MANE Select | ENSP00000389870.2:p.Gly3Ser | |
| NM_005220.2:c.7G>A | NP_005211.1:p.Gly3Ser | |
| XM_011524458.1:c.7G>A | XP_011522760.1:p.Gly3Ser | |
| NM_005220.3:c.7G>A MANE Select | NP_005211.1:p.Gly3Ser |