Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6248371G>T , CM000668.2:g.6248371G>T | GRCh38 |
| NC_000006.11:g.6248604G>T , CM000668.1:g.6248604G>T | GRCh37 |
| NC_000006.10:g.6193603G>T | NCBI36 |
| NG_008107.1:g.77321C>A , LRG_549:g.77321C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.739C>A MANE Select | ENSP00000264870.3:p.Gln247Lys | |
| ENST00000264870.7:c.739C>A | ENSP00000264870.3:p.Gln247Lys | |
| NM_000129.3:c.739C>A , LRG_549t1:c.739C>A | NP_000120.2:p.Gln247Lys | |
| XM_006715010.2:c.739C>A | XP_006715073.1:p.Gln247Lys | |
| XM_011514342.1:c.901C>A | XP_011512644.1:p.Gln301Lys | |
| NM_000129.4:c.739C>A MANE Select | NP_000120.2:p.Gln247Lys |