HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562946T>C , CM000682.2:g.57562946T>C | GRCh38 |
NC_000020.10:g.56138002T>C , CM000682.1:g.56138002T>C | GRCh37 |
NC_000020.9:g.55571408T>C | NCBI36 |
NG_008205.1:g.6866T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.610+47T>C MANE Select | ENSP00000319814.4:n.610+47T>C | |
ENST00000319441.5:c.610+47T>C | ENSP00000319814.4:n.610+47T>C | |
ENST00000467047.1:n.1867T>C | ||
ENST00000470051.1:n.113T>C | ||
ENST00000498194.1:n.552+47T>C | ||
NM_002591.3:c.610+47T>C | NP_002582.3:n.610+47T>C | |
XM_011528839.1:c.214+47T>C | XP_011527141.1:n.214+47T>C | |
XM_024451888.1:c.214+47T>C | XP_024307656.1:n.214+47T>C | |
NM_002591.4:c.610+47T>C MANE Select | NP_002582.3:n.610+47T>C |