HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24209048C>G , CM000668.2:g.24209048C>G | GRCh38 |
NC_000006.11:g.24209276C>G , CM000668.1:g.24209276C>G | GRCh37 |
NC_000006.10:g.24317255C>G | NCBI36 |
NG_012829.1:g.154005G>C | |
NG_012829.2:g.179245G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.923-3946G>C MANE Select | ENSP00000367715.3:n.923-3946G>C | |
ENST00000378454.7:c.923-3946G>C | ENSP00000367715.3:n.923-3946G>C | |
NM_001195610.1:c.923-3946G>C | NP_001182539.1:n.923-3946G>C | |
NM_016356.4:c.923-3946G>C | NP_057440.2:n.923-3946G>C | |
NM_016356.5:c.923-3946G>C MANE Select | NP_057440.2:n.923-3946G>C | |
NM_001195610.2:c.923-3946G>C | NP_001182539.1:n.923-3946G>C |