HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190402444G>C , CM000665.2:g.190402444G>C | GRCh38 |
NC_000003.11:g.190120233G>C , CM000665.1:g.190120233G>C | GRCh37 |
NC_000003.10:g.191602927G>C | NCBI36 |
NG_008149.1:g.19393G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.217+5G>C MANE Select | ENSP00000264734.3:n.217+5G>C | |
ENST00000456423.2:c.115-7459G>C | ENSP00000414136.2:n.115-7459G>C | |
ENST00000264734.2:c.427+5G>C | ENSP00000264734.2:n.427+5G>C | |
ENST00000456423.1:c.325-7459G>C | ENSP00000414136.1:n.325-7459G>C | |
ENST00000468220.1:n.409+5G>C | ||
NM_006580.3:c.427+5G>C | NP_006571.1:n.427+5G>C | |
NM_001378492.1:c.217+5G>C | NP_001365421.1:n.217+5G>C | |
NM_001378493.1:c.217+5G>C | NP_001365422.1:n.217+5G>C | |
NM_006580.4:c.217+5G>C MANE Select | NP_006571.2:n.217+5G>C |