HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155811822C>G , CM000669.2:g.155811822C>G | GRCh38 |
NC_000007.13:g.155604516C>G , CM000669.1:g.155604516C>G | GRCh37 |
NC_000007.12:g.155297277C>G | NCBI36 |
NG_007504.2:g.5452G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297261.7:c.300+1G>C MANE Select | ENSP00000297261.2:n.300+1G>C | |
ENST00000297261.6:c.300+1G>C | ENSP00000297261.2:n.300+1G>C | |
NM_000193.2:c.300+1G>C | NP_000184.1:n.300+1G>C | |
NM_000193.3:c.300+1G>C | NP_000184.1:n.300+1G>C | |
NM_000193.4:c.300+1G>C MANE Select | NP_000184.1:n.300+1G>C |