HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240873135G>T , CM000664.2:g.240873135G>T | GRCh38 |
NC_000002.11:g.241812552G>T , CM000664.1:g.241812552G>T | GRCh37 |
NC_000002.10:g.241461225G>T | NCBI36 |
NG_008005.1:g.9391G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.595+86G>T MANE Select | ENSP00000302620.3:n.595+86G>T | |
ENST00000307503.3:c.595+86G>T | ENSP00000302620.3:n.595+86G>T | |
ENST00000472436.1:n.701G>T | ||
ENST00000476698.1:n.332+86G>T | ||
NM_000030.2:c.595+86G>T | NP_000021.1:n.595+86G>T | |
NM_000030.3:c.595+86G>T MANE Select | NP_000021.1:n.595+86G>T |