HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805031A>C , CM000685.2:g.37805031A>C | GRCh38 |
NC_000023.10:g.37664284A>C , CM000685.1:g.37664284A>C | GRCh37 |
NC_000023.9:g.37549228A>C | NCBI36 |
NG_009065.1:g.30015A>C , LRG_53:g.30015A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*686A>C | ENSP00000512461.1:n.*686A>C | |
ENST00000696171.1:c.1081A>C | ENSP00000512462.1:p.Thr361Pro | |
ENST00000378588.5:c.1177A>C MANE Select | ENSP00000367851.4:p.Thr393Pro | |
ENST00000378588.4:c.1177A>C | ENSP00000367851.4:p.Thr393Pro | |
ENST00000465127.1:c.171+379031A>C | ENSP00000417050.1:n.171+379031A>C | |
NM_000397.3:c.1177A>C , LRG_53t1:c.1177A>C | NP_000388.2:p.Thr393Pro | |
XM_011543890.1:c.871A>C | XP_011542192.1:p.Thr291Pro | |
NM_000397.4:c.1177A>C MANE Select | NP_000388.2:p.Thr393Pro |