HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10568384A>G , CM000681.2:g.10568384A>G | GRCh38 |
NC_000019.9:g.10679060A>G , CM000681.1:g.10679060A>G | GRCh37 |
NC_000019.8:g.10540060A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393599.3:c.141+129T>C MANE Select | ENSP00000377224.1:n.141+129T>C | |
ENST00000335766.2:c.141+129T>C | ENSP00000337056.1:n.141+129T>C | |
ENST00000393599.2:c.141+129T>C | ENSP00000377224.1:n.141+129T>C | |
NM_001800.3:c.141+129T>C | NP_001791.1:n.141+129T>C | |
NM_079421.2:c.141+129T>C | NP_524145.1:n.141+129T>C | |
NM_001800.4:c.141+129T>C MANE Select | NP_001791.1:n.141+129T>C | |
NM_079421.3:c.141+129T>C | NP_524145.1:n.141+129T>C |