HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189001456C= , CM000664.2:g.189001456C= | GRCh38 |
NC_000002.11:g.189866182C= , CM000664.1:g.189866182C= | GRCh37 |
NC_000002.10:g.189574427C= | NCBI36 |
NG_007404.1:g.32084C= , LRG_3:g.32084C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.2238+6C= | ENSP00000415346.2:n.2238+6C= | |
ENST00000304636.9:c.2337+6C= MANE Select | ENSP00000304408.4:n.2337+6C= | |
ENST00000304636.7:c.2337+6C= | ENSP00000304408.3:n.2337+6C= | |
ENST00000317840.9:c.2337+6C= | ENSP00000315243.6:n.2337+6C= | |
NM_000090.3:c.2337+6C= , LRG_3t1:c.2337+6C= | NP_000081.1:n.2337+6C= | |
NM_000090.4:c.2337+6C= MANE Select | NP_000081.2:n.2337+6C= |