HGVS | Genome Assembly |
---|---|
NC_000019.10:g.616006G>T , CM000681.2:g.616006G>T | GRCh38 |
NC_000019.9:g.616006G>T , CM000681.1:g.616006G>T | GRCh37 |
NC_000019.8:g.567006G>T | NCBI36 |
NG_023049.1:g.22563C>A | |
NG_052810.1:g.31114G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251287.3:c.2202G>T MANE Select | ENSP00000251287.1:p.Ala734= | |
ENST00000251287.2:c.2202G>T | ENSP00000251287.1:p.Ala734= | |
NM_001194.3:c.2202G>T | NP_001185.3:p.Ala734= | |
NM_001194.4:c.2202G>T MANE Select | NP_001185.3:p.Ala734= |