HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37804999C= , CM000685.2:g.37804999C= | GRCh38 |
NC_000023.10:g.37664252C= , CM000685.1:g.37664252C= | GRCh37 |
NC_000023.9:g.37549196C= | NCBI36 |
NG_009065.1:g.29983C= , LRG_53:g.29983C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*661-7C= | ENSP00000512461.1:n.*661-7C= | |
ENST00000696171.1:c.1056-7C= | ENSP00000512462.1:n.1056-7C= | |
ENST00000378588.5:c.1152-7C= MANE Select | ENSP00000367851.4:n.1152-7C= | |
ENST00000378588.4:c.1152-7C= | ENSP00000367851.4:n.1152-7C= | |
ENST00000465127.1:c.171+378999C= | ENSP00000417050.1:n.171+378999C= | |
NM_000397.3:c.1152-7C= , LRG_53t1:c.1152-7C= | NP_000388.2:n.1152-7C= | |
XM_011543890.1:c.846-7C= | XP_011542192.1:n.846-7C= | |
NM_000397.4:c.1152-7C= MANE Select | NP_000388.2:n.1152-7C= |