Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431474G>T , CM000663.2:g.68431474G>T | GRCh38 |
| NC_000001.10:g.68897157G>T , CM000663.1:g.68897157G>T | GRCh37 |
| NC_000001.9:g.68669745G>T | NCBI36 |
| NG_008472.1:g.23486C>A | |
| NG_008472.2:g.23486C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1240C>A MANE Select | ENSP00000262340.5:p.Gln414Lys | |
| ENST00000262340.5:c.1240C>A | ENSP00000262340.5:p.Gln414Lys | |
| NM_000329.2:c.1240C>A | NP_000320.1:p.Gln414Lys | |
| XM_017002027.1:c.964C>A | XP_016857516.1:p.Gln322Lys | |
| NM_000329.3:c.1240C>A MANE Select | NP_000320.1:p.Gln414Lys |