HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232484774T>G , CM000664.2:g.232484774T>G | GRCh38 |
NC_000002.11:g.233349484T>G , CM000664.1:g.233349484T>G | GRCh37 |
NC_000002.10:g.233057728T>G | NCBI36 |
NG_034065.1:g.8086A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304546.6:c.1059+27A>C MANE Select | ENSP00000302051.1:n.1059+27A>C | |
ENST00000304546.5:c.1059+27A>C | ENSP00000302051.1:n.1059+27A>C | |
ENST00000409941.1:c.1059+27A>C | ENSP00000386333.1:n.1059+27A>C | |
ENST00000482346.1:n.1370+27A>C | ||
NM_001290787.1:c.1059+27A>C | NP_001277716.1:n.1059+27A>C | |
NM_004826.3:c.1059+27A>C | NP_004817.2:n.1059+27A>C | |
NM_004826.4:c.1059+27A>C MANE Select | NP_004817.2:n.1059+27A>C | |
NM_001290787.2:c.1059+27A>C | NP_001277716.1:n.1059+27A>C |