HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157109272A>C , CM000667.2:g.157109272A>C | GRCh38 |
NC_000005.9:g.156536283A>C , CM000667.1:g.156536283A>C | GRCh37 |
NC_000005.8:g.156468861A>C | NCBI36 |
NG_030444.1:g.4966T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524219.2:c.-293-2310T>G | ENSP00000430328.2:n.-293-2310T>G | |
ENST00000696899.1:c.-264-25T>G | ENSP00000512960.1:n.-264-25T>G | |
ENST00000696901.1:c.-289T>G | ENSP00000512962.1:n.-289T>G | |
ENST00000307851.8:c.-289T>G | ENSP00000312002.4:n.-289T>G | |
ENST00000524219.1:c.-293-2310T>G | ENSP00000430328.1:n.-293-2310T>G |