HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804964G= , CM000685.2:g.37804964G= | GRCh38 |
NC_000023.10:g.37664217G= , CM000685.1:g.37664217G= | GRCh37 |
NC_000023.9:g.37549161G= | NCBI36 |
NG_009065.1:g.29948G= , LRG_53:g.29948G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*661-42G= | ENSP00000512461.1:n.*661-42G= | |
ENST00000696171.1:c.1056-42G= | ENSP00000512462.1:n.1056-42G= | |
ENST00000378588.5:c.1152-42G= MANE Select | ENSP00000367851.4:n.1152-42G= | |
ENST00000378588.4:c.1152-42G= | ENSP00000367851.4:n.1152-42G= | |
ENST00000465127.1:c.171+378964G= | ENSP00000417050.1:n.171+378964G= | |
NM_000397.3:c.1152-42G= , LRG_53t1:c.1152-42G= | NP_000388.2:n.1152-42G= | |
XM_011543890.1:c.846-42G= | XP_011542192.1:n.846-42G= | |
NM_000397.4:c.1152-42G= MANE Select | NP_000388.2:n.1152-42G= |