Linked Data
dbSNP Id:
rs17856697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7445306A>C , CM000679.2:g.7445306A>C | GRCh38 |
| NC_000017.10:g.7348625A>C , CM000679.1:g.7348625A>C | GRCh37 |
| NC_000017.9:g.7289349A>C | NCBI36 |
| NG_008026.1:g.5220A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.95A>C MANE Select | ENSP00000304290.2:p.Glu32Ala | |
| ENST00000306071.6:c.95A>C | ENSP00000304290.2:p.Glu32Ala | |
| ENST00000572857.5:c.95A>C | ENSP00000461402.1:p.Glu32Ala | |
| ENST00000574054.1:n.115A>C | ||
| NM_000747.2:c.95A>C | NP_000738.2:p.Glu32Ala | |
| NM_000747.3:c.95A>C MANE Select | NP_000738.2:p.Glu32Ala |