Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35284837G>C , CM000681.2:g.35284837G>C | GRCh38 |
| NC_000019.9:g.35775740G>C , CM000681.1:g.35775740G>C | GRCh37 |
| NC_000019.8:g.40467580G>C | NCBI36 |
| NG_011563.1:g.7331G>C | |
| NG_011563.2:g.7331G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222304.5:c.139G>C MANE Select | ENSP00000222304.2:p.Ala47Pro | |
| ENST00000222304.3:c.139G>C | ENSP00000222304.2:p.Ala47Pro | |
| ENST00000593580.1:n.2321G>C | ||
| ENST00000598398.5:c.139G>C | ENSP00000471894.1:p.Ala47Pro | |
| NM_021175.2:c.139G>C | NP_066998.1:p.Ala47Pro | |
| NM_021175.3:c.139G>C | NP_066998.1:p.Ala47Pro | |
| NM_021175.4:c.139G>C MANE Select | NP_066998.1:p.Ala47Pro |