HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115033486A>C , CM000663.2:g.115033486A>C | GRCh38 |
NC_000001.10:g.115576107A>C , CM000663.1:g.115576107A>C | GRCh37 |
NC_000001.9:g.115377630A>C | NCBI36 |
NG_015891.1:g.8693A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256592.3:c.124A>C MANE Select | ENSP00000256592.1:p.Ile42Leu | |
ENST00000256592.2:c.124A>C | ENSP00000256592.1:p.Ile42Leu | |
ENST00000369517.1:c.124A>C | ENSP00000358530.1:p.Ile42Leu | |
NM_000549.4:c.124A>C | NP_000540.2:p.Ile42Leu | |
XM_011542065.1:c.124A>C | XP_011540367.1:p.Ile42Leu | |
XM_011542065.2:c.124A>C | XP_011540367.1:p.Ile42Leu | |
NM_000549.5:c.124A>C MANE Select | NP_000540.2:p.Ile42Leu |