HGVS | Genome Assembly |
---|---|
NC_000006.12:g.107893901G>C , CM000668.2:g.107893901G>C | GRCh38 |
NC_000006.11:g.108215105G>C , CM000668.1:g.108215105G>C | GRCh37 |
NC_000006.10:g.108321798G>C | NCBI36 |
NG_008270.1:g.69378C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369002.9:c.1441-4C>G MANE Select | ENSP00000357998.4:n.1441-4C>G | |
ENST00000369002.8:c.1441-4C>G | ENSP00000357998.4:n.1441-4C>G | |
ENST00000466419.1:n.289-4C>G | ||
NM_007214.4:c.1441-4C>G | NP_009145.1:n.1441-4C>G | |
XM_011535399.1:c.1273-4C>G | XP_011533701.1:n.1273-4C>G | |
XM_017010218.2:c.343-4C>G | XP_016865707.1:n.343-4C>G | |
NM_007214.5:c.1441-4C>G MANE Select | NP_009145.1:n.1441-4C>G |