HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157109189A>C , CM000667.2:g.157109189A>C | GRCh38 |
NC_000005.9:g.156536200A>C , CM000667.1:g.156536200A>C | GRCh37 |
NC_000005.8:g.156468778A>C | NCBI36 |
NG_030444.1:g.5049T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-2227T>G | ENSP00000430328.2:n.-293-2227T>G | |
ENST00000696899.1:c.-206T>G | ENSP00000512960.1:n.-206T>G | |
ENST00000696900.1:c.-801T>G | ENSP00000512961.1:n.-801T>G | |
ENST00000696901.1:c.-206T>G | ENSP00000512962.1:n.-206T>G | |
ENST00000307851.8:c.-206T>G | ENSP00000312002.4:n.-206T>G | |
ENST00000524219.1:c.-293-2227T>G | ENSP00000430328.1:n.-293-2227T>G | |
NM_032782.4:c.-206T>G | NP_116171.3:n.-206T>G |