HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6036269G>C , CM000674.2:g.6036269G>C | GRCh38 |
NC_000012.11:g.6145435G>C , CM000674.1:g.6145435G>C | GRCh37 |
NC_000012.10:g.6015696G>C | NCBI36 |
NG_009072.1:g.93402C>G | |
NG_009072.2:g.93402C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2546+119C>G MANE Select | ENSP00000261405.5:n.2546+119C>G | |
ENST00000261405.9:c.2546+119C>G | ENSP00000261405.5:n.2546+119C>G | |
ENST00000538635.5:n.421-42335C>G | ||
NM_000552.3:c.2546+119C>G | NP_000543.2:n.2546+119C>G | |
NM_000552.4:c.2546+119C>G | NP_000543.2:n.2546+119C>G | |
NM_000552.5:c.2546+119C>G MANE Select | NP_000543.3:n.2546+119C>G |