Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12812906A>C , CM000686.2:g.12812906A>C | GRCh38 |
| NC_000024.9:g.14924841A>C , CM000686.1:g.14924841A>C | GRCh37 |
| NC_000024.8:g.13434235A>C | NCBI36 |
| NG_008311.1:g.116682A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.4463A>C | ENSP00000498372.1:p.Glu1488Ala | |
| ENST00000338981.7:c.4463A>C MANE Select | ENSP00000342812.3:p.Glu1488Ala | |
| ENST00000426564.6:n.4475A>C | ||
| NM_004654.3:c.4463A>C | NP_004645.2:p.Glu1488Ala | |
| XM_011531469.1:c.4463A>C | XP_011529771.1:p.Glu1488Ala | |
| XM_011531470.1:c.4229A>C | XP_011529772.1:p.Glu1410Ala | |
| XM_017030078.2:c.4478A>C | XP_016885567.1:p.Glu1493Ala | |
| NM_004654.4:c.4463A>C MANE Select | NP_004645.2:p.Glu1488Ala |