Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587316C>A , CM000681.2:g.48587316C>A | GRCh38 |
| NC_000019.9:g.49090573C>A , CM000681.1:g.49090573C>A | GRCh37 |
| NC_000019.8:g.53782385C>A | NCBI36 |
| NG_029063.1:g.40145C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.302C>A MANE Select | ENSP00000201586.2:p.Ala101Glu | |
| ENST00000201586.6:c.302C>A | ENSP00000201586.1:p.Ala101Glu | |
| ENST00000323090.4:c.257C>A | ENSP00000312880.3:p.Ala86Glu | |
| NM_004605.2:c.257C>A | NP_004596.2:p.Ala86Glu | |
| NM_177973.1:c.302C>A | NP_814444.1:p.Ala101Glu | |
| NM_177973.2:c.302C>A MANE Select | NP_814444.1:p.Ala101Glu |