HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57563011G>T , CM000682.2:g.57563011G>T | GRCh38 |
NC_000020.10:g.56138067G>T , CM000682.1:g.56138067G>T | GRCh37 |
NC_000020.9:g.55571473G>T | NCBI36 |
NG_008205.1:g.6931G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.611-17G>T MANE Select | ENSP00000319814.4:n.611-17G>T | |
ENST00000319441.5:c.611-17G>T | ENSP00000319814.4:n.611-17G>T | |
ENST00000467047.1:n.1932G>T | ||
ENST00000470051.1:n.178G>T | ||
ENST00000498194.1:n.553-17G>T | ||
NM_002591.3:c.611-17G>T | NP_002582.3:n.611-17G>T | |
XM_011528839.1:c.215-17G>T | XP_011527141.1:n.215-17G>T | |
XM_024451888.1:c.215-17G>T | XP_024307656.1:n.215-17G>T | |
NM_002591.4:c.611-17G>T MANE Select | NP_002582.3:n.611-17G>T |