HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157109182T>A , CM000667.2:g.157109182T>A | GRCh38 |
NC_000005.9:g.156536193T>A , CM000667.1:g.156536193T>A | GRCh37 |
NC_000005.8:g.156468771T>A | NCBI36 |
NG_030444.1:g.5056A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-2220A>T | ENSP00000430328.2:n.-293-2220A>T | |
ENST00000696899.1:c.-199A>T | ENSP00000512960.1:n.-199A>T | |
ENST00000696900.1:c.-794A>T | ENSP00000512961.1:n.-794A>T | |
ENST00000696901.1:c.-199A>T | ENSP00000512962.1:n.-199A>T | |
ENST00000307851.8:c.-199A>T | ENSP00000312002.4:n.-199A>T | |
ENST00000524219.1:c.-293-2220A>T | ENSP00000430328.1:n.-293-2220A>T | |
NM_032782.4:c.-199A>T | NP_116171.3:n.-199A>T |