HGVS | Genome Assembly |
---|---|
NC_000021.9:g.33026401T>G , CM000683.2:g.33026401T>G | GRCh38 |
NC_000021.8:g.34398709T>G , CM000683.1:g.34398709T>G | GRCh37 |
NC_000021.7:g.33320579T>G | NCBI36 |
NG_011834.1:g.5471T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382357.4:c.-63+375T>G MANE Select | ENSP00000371794.3:n.-63+375T>G | |
ENST00000333337.3:c.-462T>G | ENSP00000331040.3:n.-462T>G | |
ENST00000382357.3:c.-63+375T>G | ENSP00000371794.3:n.-63+375T>G | |
ENST00000430860.1:c.-63+141T>G | ENSP00000391183.1:n.-63+141T>G | |
NM_005806.3:c.-63+375T>G | NP_005797.1:n.-63+375T>G | |
XM_005260908.1:c.-63+141T>G | XP_005260965.1:n.-63+141T>G | |
NM_005806.4:c.-63+375T>G MANE Select | NP_005797.1:n.-63+375T>G |