HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851151G>C , CM000668.2:g.131851151G>C | GRCh38 |
NC_000006.11:g.132172291G>C , CM000668.1:g.132172291G>C | GRCh37 |
NC_000006.10:g.132213984G>C | NCBI36 |
NG_008206.1:g.48136G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647893.1:c.440G>C MANE Select | ENSP00000498074.1:p.Trp147Ser | |
ENST00000650147.1:c.118G>C | ||
ENST00000650437.1:c.108+1045G>C | ||
ENST00000360971.6:c.440G>C | ENSP00000354238.2:p.Trp147Ser | |
ENST00000486853.1:n.460G>C | ||
ENST00000513998.5:c.440G>C | ENSP00000422424.1:p.Trp147Ser | |
NM_006208.2:c.440G>C | NP_006199.2:p.Trp147Ser | |
NM_006208.3:c.440G>C MANE Select | NP_006199.2:p.Trp147Ser |