HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189008483C>G , CM000664.2:g.189008483C>G | GRCh38 |
NC_000002.11:g.189873209C>G , CM000664.1:g.189873209C>G | GRCh37 |
NC_000002.10:g.189581454C>G | NCBI36 |
NG_007404.1:g.39111C>G , LRG_3:g.39111C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3426+341C>G | ENSP00000415346.2:n.3426+341C>G | |
ENST00000304636.9:c.3525+341C>G MANE Select | ENSP00000304408.4:n.3525+341C>G | |
ENST00000304636.7:c.3525+341C>G | ENSP00000304408.3:n.3525+341C>G | |
ENST00000317840.9:c.2616+341C>G | ENSP00000315243.6:n.2616+341C>G | |
ENST00000487010.1:n.182C>G | ||
NM_000090.3:c.3525+341C>G , LRG_3t1:c.3525+341C>G | NP_000081.1:n.3525+341C>G | |
NM_000090.4:c.3525+341C>G MANE Select | NP_000081.2:n.3525+341C>G |