HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29223519C>T , CM000664.2:g.29223519C>T | GRCh38 |
NC_000002.11:g.29446385C>T , CM000664.1:g.29446385C>T | GRCh37 |
NC_000002.10:g.29299889C>T | NCBI36 |
NG_009445.1:g.703048G>A , LRG_488:g.703048G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.3182G>A MANE Select | ENSP00000373700.3:p.Arg1061Gln | |
ENST00000431873.6:c.409G>A | ||
ENST00000638605.1:n.59G>A | ||
ENST00000642122.1:c.-23G>A | ENSP00000493203.1:n.-23G>A | |
ENST00000389048.7:c.3182G>A | ENSP00000373700.3:p.Arg1061Gln | |
ENST00000431873.5:c.62G>A | ENSP00000414027.2:p.Arg21Gln | |
ENST00000618119.4:c.2051G>A | ENSP00000482733.1:p.Arg684Gln | |
NM_004304.4:c.3182G>A | NP_004295.2:p.Arg1061Gln | |
NM_001353765.1:c.-23G>A | NP_001340694.1:n.-23G>A | |
XM_024452778.1:c.335G>A | XP_024308546.1:p.Arg112Gln | |
XM_024452779.1:c.-23G>A | XP_024308547.1:n.-23G>A | |
XR_001738688.2:n.4038G>A | ||
NM_004304.5:c.3182G>A MANE Select | NP_004295.2:p.Arg1061Gln | |
NM_001353765.2:c.-23G>A | NP_001340694.1:n.-23G>A |