Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224719G>T , CM000668.2:g.6224719G>T | GRCh38 |
| NC_000006.11:g.6224952G>T , CM000668.1:g.6224952G>T | GRCh37 |
| NC_000006.10:g.6169951G>T | NCBI36 |
| NG_008107.1:g.100973C>A , LRG_549:g.100973C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.940C>A MANE Select | ENSP00000264870.3:p.Gln314Lys | |
| ENST00000264870.7:c.940C>A | ENSP00000264870.3:p.Gln314Lys | |
| ENST00000445223.1:c.90C>A | ||
| NM_000129.3:c.940C>A , LRG_549t1:c.940C>A | NP_000120.2:p.Gln314Lys | |
| XM_006715010.2:c.940C>A | XP_006715073.1:p.Gln314Lys | |
| XM_011514342.1:c.1102C>A | XP_011512644.1:p.Gln368Lys | |
| NM_000129.4:c.940C>A MANE Select | NP_000120.2:p.Gln314Lys |