HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805048G>A , CM000685.2:g.37805048G>A | GRCh38 |
NC_000023.10:g.37664301G>A , CM000685.1:g.37664301G>A | GRCh37 |
NC_000023.9:g.37549245G>A | NCBI36 |
NG_009065.1:g.30032G>A , LRG_53:g.30032G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*703G>A | ENSP00000512461.1:n.*703G>A | |
ENST00000696171.1:c.1098G>A | ENSP00000512462.1:p.Val366= | |
ENST00000378588.5:c.1194G>A MANE Select | ENSP00000367851.4:p.Val398= | |
ENST00000378588.4:c.1194G>A | ENSP00000367851.4:p.Val398= | |
ENST00000465127.1:c.171+379048G>A | ENSP00000417050.1:n.171+379048G>A | |
NM_000397.3:c.1194G>A , LRG_53t1:c.1194G>A | NP_000388.2:p.Val398= | |
XM_011543890.1:c.888G>A | XP_011542192.1:p.Val296= | |
NM_000397.4:c.1194G>A MANE Select | NP_000388.2:p.Val398= |