HGVS | Genome Assembly |
---|---|
NC_000021.9:g.33026485A>T , CM000683.2:g.33026485A>T | GRCh38 |
NC_000021.8:g.34398793A>T , CM000683.1:g.34398793A>T | GRCh37 |
NC_000021.7:g.33320663A>T | NCBI36 |
NG_011834.1:g.5555A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382357.4:c.-62-316A>T MANE Select | ENSP00000371794.3:n.-62-316A>T | |
ENST00000333337.3:c.-378A>T | ENSP00000331040.3:n.-378A>T | |
ENST00000382357.3:c.-62-316A>T | ENSP00000371794.3:n.-62-316A>T | |
ENST00000430860.1:c.-63+225A>T | ENSP00000391183.1:n.-63+225A>T | |
NM_005806.3:c.-62-316A>T | NP_005797.1:n.-62-316A>T | |
XM_005260908.1:c.-63+225A>T | XP_005260965.1:n.-63+225A>T | |
NM_005806.4:c.-62-316A>T MANE Select | NP_005797.1:n.-62-316A>T |