HGVS | Genome Assembly |
---|---|
NC_000001.11:g.43997532C>T , CM000663.2:g.43997532C>T | GRCh38 |
NC_000001.10:g.44463204C>T , CM000663.1:g.44463204C>T | GRCh37 |
NC_000001.9:g.44235791C>T | NCBI36 |
NG_050929.1:g.38961G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372310.8:c.*13G>A MANE Select | ENSP00000361384.4:n.*13G>A | |
ENST00000673836.1:c.*13G>A | ENSP00000501314.1:n.*13G>A | |
ENST00000357730.6:c.*13G>A | ENSP00000350362.2:n.*13G>A | |
ENST00000360584.6:c.*13G>A | ENSP00000353791.2:n.*13G>A | |
ENST00000372306.7:c.1624+3235G>A | ENSP00000361380.3:n.1624+3235G>A | |
ENST00000372307.7:c.1341+3235G>A | ENSP00000361381.3:n.1341+3235G>A | |
ENST00000372310.7:c.*13G>A | ENSP00000361384.3:n.*13G>A | |
ENST00000475075.6:c.*13G>A | ENSP00000434460.1:n.*13G>A | |
NM_001024845.2:c.*13G>A | NP_001020016.1:n.*13G>A | |
NM_001261380.1:c.*13G>A | NP_001248309.1:n.*13G>A | |
NM_006934.3:c.*13G>A | NP_008865.2:n.*13G>A | |
NM_201649.3:c.*13G>A | NP_964012.2:n.*13G>A | |
NR_048548.1:n.2175G>A | ||
NR_048549.1:n.1898G>A | ||
NM_001328626.1:c.*13G>A | NP_001315555.1:n.*13G>A | |
NM_001328627.1:c.*13G>A | NP_001315556.1:n.*13G>A | |
NM_001328628.1:c.*13G>A | NP_001315557.1:n.*13G>A | |
NM_001328629.1:c.*13G>A | NP_001315558.1:n.*13G>A | |
NM_001328630.1:c.*13G>A | NP_001315559.1:n.*13G>A | |
XM_017002152.2:c.*13G>A | XP_016857641.1:n.*13G>A | |
XM_017002153.2:c.*13G>A | XP_016857642.1:n.*13G>A | |
XM_024449295.1:c.*13G>A | XP_024305063.1:n.*13G>A | |
NM_001024845.3:c.*13G>A MANE Select | NP_001020016.1:n.*13G>A | |
NM_001261380.2:c.*13G>A | NP_001248309.1:n.*13G>A | |
NM_001328626.2:c.*13G>A | NP_001315555.1:n.*13G>A | |
NM_001328630.2:c.*13G>A | NP_001315559.1:n.*13G>A | |
NM_006934.4:c.*13G>A | NP_008865.2:n.*13G>A | |
NM_201649.4:c.*13G>A | NP_964012.2:n.*13G>A | |
NR_048548.2:n.1998G>A |