HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951835T>C , CM000670.2:g.19951835T>C | GRCh38 |
NC_000008.10:g.19809346T>C , CM000670.1:g.19809346T>C | GRCh37 |
NC_000008.9:g.19853626T>C | NCBI36 |
NG_008855.1:g.17765T>C | |
NG_008855.2:g.55119T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.316T>C MANE Select | ENSP00000497642.1:p.Ser106Pro | |
ENST00000311322.8:c.316T>C | ENSP00000309757.6:p.Ser106Pro | |
ENST00000520959.5:c.88T>C | ENSP00000428496.1:p.Ser30Pro | |
ENST00000522701.5:c.316T>C | ||
ENST00000524029.5:c.316T>C | ENSP00000428237.1:p.Ser106Pro | |
NM_000237.2:c.316T>C | NP_000228.1:p.Ser106Pro | |
NM_000237.3:c.316T>C MANE Select | NP_000228.1:p.Ser106Pro |