HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352555C>A , CM000671.2:g.133352555C>A | GRCh38 |
NC_000009.10:g.135209231C>A | NCBI36 |
NG_008477.1:g.8952G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.642G>T MANE Select | ENSP00000361042.3:p.Gln214His | |
ENST00000371974.7:c.642G>T | ENSP00000361042.3:p.Gln214His | |
ENST00000437995.1:n.552G>T | ||
ENST00000495952.5:n.632G>T | ||
ENST00000615505.4:c.315G>T | ENSP00000482067.1:p.Gln105His | |
NM_001280787.1:c.315G>T | NP_001267716.1:p.Gln105His | |
NM_003172.3:c.642G>T | NP_003163.1:p.Gln214His | |
XM_011518942.1:c.315G>T | XP_011517244.1:p.Gln105His | |
NM_003172.4:c.642G>T MANE Select | NP_003163.1:p.Gln214His |