HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31668517G>C , CM000683.2:g.31668517G>C | GRCh38 |
NC_000021.8:g.33040830G>C , CM000683.1:g.33040830G>C | GRCh37 |
NC_000021.7:g.31962701G>C | NCBI36 |
NG_008689.1:g.13896G>C , LRG_652:g.13896G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270142.11:c.404G>C MANE Select | ENSP00000270142.7:p.Ser135Thr | |
ENST00000270142.10:c.404G>C | ENSP00000270142.6:p.Ser135Thr | |
ENST00000389995.4:c.347G>C | ENSP00000374645.4:p.Ser116Thr | |
ENST00000470944.1:n.1332G>C | ||
NM_000454.4:c.404G>C , LRG_652t1:c.404G>C | NP_000445.1:p.Ser135Thr | |
NM_000454.5:c.404G>C MANE Select | NP_000445.1:p.Ser135Thr |