Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12857650C>A , CM000686.2:g.12857650C>A | GRCh38 |
| NC_000024.9:g.14969575C>A , CM000686.1:g.14969575C>A | GRCh37 |
| NC_000024.8:g.13478969C>A | NCBI36 |
| NG_008311.1:g.161416C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.7519C>A | ENSP00000498372.1:p.Gln2507Lys | |
| ENST00000338981.7:c.7519C>A MANE Select | ENSP00000342812.3:p.Gln2507Lys | |
| ENST00000426564.6:n.7546C>A | ||
| ENST00000453031.1:c.564C>A | ||
| ENST00000471409.1:n.838C>A | ||
| NM_004654.3:c.7519C>A | NP_004645.2:p.Gln2507Lys | |
| XM_011531469.1:c.7519C>A | XP_011529771.1:p.Gln2507Lys | |
| XM_011531470.1:c.7285C>A | XP_011529772.1:p.Gln2429Lys | |
| XM_017030078.2:c.7534C>A | XP_016885567.1:p.Gln2512Lys | |
| NM_004654.4:c.7519C>A MANE Select | NP_004645.2:p.Gln2507Lys |