HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192541C>G , CM000685.2:g.50192541C>G | GRCh38 |
NC_000023.10:g.49957192C>G , CM000685.1:g.49957192C>G | GRCh37 |
NC_000023.9:g.49843932C>G | NCBI36 |
NG_012552.1:g.13473G>C | |
NG_012552.2:g.13473G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2172G>C MANE Select | ENSP00000351327.2:p.Leu724Phe | |
ENST00000358526.6:c.2172G>C | ENSP00000351327.2:p.Leu724Phe | |
ENST00000376064.7:c.2145G>C | ENSP00000365232.3:p.Leu715Phe | |
ENST00000481402.5:n.2284G>C | ||
NM_003886.2:c.2172G>C | NP_003877.2:p.Leu724Phe | |
NM_139289.1:c.2145G>C | NP_647450.1:p.Leu715Phe | |
NM_003886.3:c.2172G>C MANE Select | NP_003877.2:p.Leu724Phe | |
NM_139289.2:c.2145G>C | NP_647450.1:p.Leu715Phe |