HGVS | Genome Assembly |
---|---|
NC_000016.10:g.10539075A>G , CM000678.2:g.10539075A>G | GRCh38 |
NC_000016.9:g.10632932A>G , CM000678.1:g.10632932A>G | GRCh37 |
NC_000016.8:g.10540433A>G | NCBI36 |
NG_042058.1:g.46642T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359543.8:c.170-1001T>C MANE Select | ENSP00000352540.3:n.170-1001T>C | |
ENST00000359543.7:c.170-1001T>C | ENSP00000352540.3:n.170-1001T>C | |
ENST00000536829.1:c.170-1001T>C | ENSP00000445712.1:n.170-1001T>C | |
NM_001424.4:c.170-1001T>C | NP_001415.1:n.170-1001T>C | |
NM_001424.5:c.170-1001T>C | NP_001415.1:n.170-1001T>C | |
XM_006720864.2:c.170-1001T>C | XP_006720927.1:n.170-1001T>C | |
XM_006720864.3:c.170-1001T>C | XP_006720927.1:n.170-1001T>C | |
NM_001424.6:c.170-1001T>C MANE Select | NP_001415.1:n.170-1001T>C |