HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663142G>C , CM000676.2:g.36663142G>C | GRCh38 |
NC_000014.8:g.37132347G>C , CM000676.1:g.37132347G>C | GRCh37 |
NC_000014.7:g.36202098G>C | NCBI36 |
NG_013357.1:g.10575G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.250G>C MANE Select | ENSP00000355245.6:p.Val84Leu | |
ENST00000555639.2:c.250G>C | ||
ENST00000361487.6:c.250G>C | ENSP00000355245.6:p.Val84Leu | |
ENST00000402703.6:c.250G>C | ENSP00000384817.2:p.Val84Leu | |
ENST00000554201.1:c.-312G>C | ENSP00000450434.1:n.-312G>C | |
ENST00000555639.1:n.552G>C | ||
NM_006194.3:c.250G>C | NP_006185.1:p.Val84Leu | |
NM_001372076.1:c.250G>C MANE Select | NP_001359005.1:p.Val84Leu | |
NM_006194.4:c.250G>C | NP_006185.1:p.Val84Leu |