HGVS | Genome Assembly |
---|---|
NC_000019.10:g.13135737A>T , CM000681.2:g.13135737A>T | GRCh38 |
NC_000019.9:g.13246551A>T , CM000681.1:g.13246551A>T | GRCh37 |
NC_000019.8:g.13107551A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000586171.3:c.530A>T | ENSP00000467120.2:p.Gln177Leu | |
ENST00000700232.1:c.530A>T | ENSP00000514870.1:p.Gln177Leu | |
ENST00000292431.5:c.530A>T MANE Select | ENSP00000292431.3:p.Gln177Leu | |
ENST00000292431.4:c.530A>T | ENSP00000292431.3:p.Gln177Leu | |
NM_052876.3:c.530A>T | NP_443108.1:p.Gln177Leu | |
XM_005259721.2:c.530A>T | XP_005259778.1:p.Gln177Leu | |
XM_005259721.3:c.530A>T | XP_005259778.1:p.Gln177Leu | |
NM_052876.4:c.530A>T MANE Select | NP_443108.1:p.Gln177Leu |