Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12810679C>A , CM000686.2:g.12810679C>A | GRCh38 |
| NC_000024.9:g.14922614C>A , CM000686.1:g.14922614C>A | GRCh37 |
| NC_000024.8:g.13432008C>A | NCBI36 |
| NG_008311.1:g.114455C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651177.1:c.4100C>A | ENSP00000498372.1:p.Ala1367Glu | |
| ENST00000338981.7:c.4100C>A MANE Select | ENSP00000342812.3:p.Ala1367Glu | |
| ENST00000426564.6:n.4112C>A | ||
| NM_004654.3:c.4100C>A | NP_004645.2:p.Ala1367Glu | |
| XM_011531469.1:c.4100C>A | XP_011529771.1:p.Ala1367Glu | |
| XM_011531470.1:c.3866C>A | XP_011529772.1:p.Ala1289Glu | |
| XM_017030078.2:c.4115C>A | XP_016885567.1:p.Ala1372Glu | |
| NM_004654.4:c.4100C>A MANE Select | NP_004645.2:p.Ala1367Glu |