HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928828T>C , CM000684.2:g.43928828T>C | GRCh38 |
NC_000022.10:g.44324708T>C , CM000684.1:g.44324708T>C | GRCh37 |
NC_000022.9:g.42656041T>C | NCBI36 |
NG_008631.1:g.10090T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.425T>C MANE Select | ENSP00000216180.3:p.Leu142Ser | |
ENST00000216180.7:c.425T>C | ENSP00000216180.3:p.Leu142Ser | |
ENST00000406117.6:c.*57T>C | ENSP00000384668.2:n.*57T>C | |
ENST00000423180.2:c.413T>C | ENSP00000397987.2:p.Leu138Ser | |
ENST00000478713.1:n.459T>C | ||
NM_025225.2:c.425T>C | NP_079501.2:p.Leu142Ser | |
NM_025225.3:c.425T>C MANE Select | NP_079501.2:p.Leu142Ser |