HGVS | Genome Assembly |
---|---|
NC_000021.9:g.33026514T>C , CM000683.2:g.33026514T>C | GRCh38 |
NC_000021.8:g.34398822T>C , CM000683.1:g.34398822T>C | GRCh37 |
NC_000021.7:g.33320692T>C | NCBI36 |
NG_011834.1:g.5584T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382357.4:c.-62-287T>C MANE Select | ENSP00000371794.3:n.-62-287T>C | |
ENST00000333337.3:c.-349T>C | ENSP00000331040.3:n.-349T>C | |
ENST00000382357.3:c.-62-287T>C | ENSP00000371794.3:n.-62-287T>C | |
ENST00000430860.1:c.-63+254T>C | ENSP00000391183.1:n.-63+254T>C | |
NM_005806.3:c.-62-287T>C | NP_005797.1:n.-62-287T>C | |
XM_005260908.1:c.-63+254T>C | XP_005260965.1:n.-63+254T>C | |
NM_005806.4:c.-62-287T>C MANE Select | NP_005797.1:n.-62-287T>C |