HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36701519C>G , CM000684.2:g.36701519C>G | GRCh38 |
NC_000022.10:g.37097564C>G , CM000684.1:g.37097564C>G | GRCh37 |
NC_000022.9:g.35427510C>G | NCBI36 |
NG_031861.1:g.6127G>C | |
NG_031861.2:g.6340G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300105.7:c.211+847G>C MANE Select | ENSP00000300105.6:n.211+847G>C | |
ENST00000300105.6:c.211+847G>C | ENSP00000300105.6:n.211+847G>C | |
NM_006078.3:c.211+847G>C | NP_006069.1:n.211+847G>C | |
NM_006078.4:c.211+847G>C | NP_006069.1:n.211+847G>C | |
NM_001379051.1:c.142+847G>C | NP_001365980.1:n.142+847G>C | |
NM_006078.5:c.211+847G>C MANE Select | NP_006069.1:n.211+847G>C | |
NR_166440.1:n.1387+847G>C |