HGVS | Genome Assembly |
---|---|
NC_000001.11:g.203180945C>T , CM000663.2:g.203180945C>T | GRCh38 |
NC_000001.10:g.203150073C>T , CM000663.1:g.203150073C>T | GRCh37 |
NC_000001.9:g.201416696C>T | NCBI36 |
NG_013056.1:g.10850G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000255409.8:c.711+217G>A MANE Select | ENSP00000255409.3:n.711+217G>A | |
ENST00000255409.7:c.711+217G>A | ENSP00000255409.3:n.711+217G>A | |
ENST00000404436.2:c.199+217G>A | ||
ENST00000472064.1:n.235+217G>A | ||
ENST00000473185.1:n.973+217G>A | ||
NM_001276.2:c.711+217G>A | NP_001267.2:n.711+217G>A | |
XM_011509105.1:c.729+217G>A | XP_011507407.1:n.729+217G>A | |
XM_011509106.1:c.729+217G>A | XP_011507408.1:n.729+217G>A | |
XM_011509107.1:c.711+217G>A | XP_011507409.1:n.711+217G>A | |
XM_011509108.1:c.729+217G>A | XP_011507410.1:n.729+217G>A | |
NM_001276.3:c.711+217G>A | NP_001267.2:n.711+217G>A | |
NM_001276.4:c.711+217G>A MANE Select | NP_001267.2:n.711+217G>A |