HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157109199C>A , CM000667.2:g.157109199C>A | GRCh38 |
NC_000005.9:g.156536210C>A , CM000667.1:g.156536210C>A | GRCh37 |
NC_000005.8:g.156468788C>A | NCBI36 |
NG_030444.1:g.5039G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-2237G>T | ENSP00000430328.2:n.-293-2237G>T | |
ENST00000696899.1:c.-216G>T | ENSP00000512960.1:n.-216G>T | |
ENST00000696900.1:c.-811G>T | ENSP00000512961.1:n.-811G>T | |
ENST00000696901.1:c.-216G>T | ENSP00000512962.1:n.-216G>T | |
ENST00000307851.8:c.-216G>T | ENSP00000312002.4:n.-216G>T | |
ENST00000524219.1:c.-293-2237G>T | ENSP00000430328.1:n.-293-2237G>T | |
NM_032782.4:c.-216G>T | NP_116171.3:n.-216G>T |