HGVS | Genome Assembly |
---|---|
NC_000021.9:g.33026437C>A , CM000683.2:g.33026437C>A | GRCh38 |
NC_000021.8:g.34398745C>A , CM000683.1:g.34398745C>A | GRCh37 |
NC_000021.7:g.33320615C>A | NCBI36 |
NG_011834.1:g.5507C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382357.4:c.-62-364C>A MANE Select | ENSP00000371794.3:n.-62-364C>A | |
ENST00000333337.3:c.-426C>A | ENSP00000331040.3:n.-426C>A | |
ENST00000382357.3:c.-62-364C>A | ENSP00000371794.3:n.-62-364C>A | |
ENST00000430860.1:c.-63+177C>A | ENSP00000391183.1:n.-63+177C>A | |
NM_005806.3:c.-62-364C>A | NP_005797.1:n.-62-364C>A | |
XM_005260908.1:c.-63+177C>A | XP_005260965.1:n.-63+177C>A | |
NM_005806.4:c.-62-364C>A MANE Select | NP_005797.1:n.-62-364C>A |