HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186679835C>T , CM000663.2:g.186679835C>T | GRCh38 |
NC_000001.10:g.186648967C>T , CM000663.1:g.186648967C>T | GRCh37 |
NC_000001.9:g.184915590C>T | NCBI36 |
NG_028206.2:g.5593G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367468.10:c.53-397G>A MANE Select | ENSP00000356438.5:n.53-397G>A | |
ENST00000680451.1:c.53-397G>A | ENSP00000506242.1:n.53-397G>A | |
ENST00000681605.1:c.53-397G>A | ENSP00000504900.1:n.53-397G>A | |
ENST00000367468.9:c.53-397G>A | ENSP00000356438.5:n.53-397G>A | |
ENST00000490885.6:n.186-397G>A | ||
ENST00000559627.1:c.53-397G>A | ENSP00000454130.1:n.53-397G>A | |
ENST00000559800.1:n.186-397G>A | ||
NM_000963.3:c.53-397G>A | NP_000954.1:n.53-397G>A | |
NM_000963.4:c.53-397G>A MANE Select | NP_000954.1:n.53-397G>A |