HGVS | Genome Assembly |
---|---|
NC_000005.10:g.156344488G>A , CM000667.2:g.156344488G>A | GRCh38 |
NC_000005.9:g.155771498G>A , CM000667.1:g.155771498G>A | GRCh37 |
NC_000005.8:g.155704076G>A | NCBI36 |
NG_008693.2:g.479145G>A , LRG_205:g.479145G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337851.9:c.4-1G>A MANE Select | ENSP00000338343.4:n.4-1G>A | |
ENST00000337851.8:c.4-1G>A | ENSP00000338343.4:n.4-1G>A | |
ENST00000435422.7:c.1-1G>A | ENSP00000403003.2:n.1-1G>A | |
ENST00000517913.5:c.4-1G>A | ENSP00000429378.1:n.4-1G>A | |
ENST00000524347.2:c.4-1G>A | ENSP00000430794.1:n.4-1G>A | |
NM_000337.5:c.4-1G>A , LRG_205t1:c.4-1G>A | NP_000328.2:n.4-1G>A | |
NM_001128209.1:c.1-1G>A | NP_001121681.1:n.1-1G>A | |
NM_172244.2:c.4-1G>A | NP_758447.1:n.4-1G>A | |
XM_005265966.3:c.4-1G>A | XP_005266023.1:n.4-1G>A | |
XM_005265967.1:c.4-1G>A | XP_005266024.1:n.4-1G>A | |
XM_006714911.2:c.4-1G>A | XP_006714974.1:n.4-1G>A | |
XM_011534621.1:c.1-1G>A | XP_011532923.1:n.1-1G>A | |
XR_941123.1:n.254+2965C>T | ||
XM_005265966.5:c.4-1G>A | XP_005266023.1:n.4-1G>A | |
XM_005265967.2:c.4-1G>A | XP_005266024.1:n.4-1G>A | |
XM_011534621.2:c.1-1G>A | XP_011532923.1:n.1-1G>A | |
XM_017009723.2:c.4-1G>A | XP_016865212.1:n.4-1G>A | |
XM_017009724.1:c.4-1G>A | XP_016865213.1:n.4-1G>A | |
NM_001128209.2:c.1-1G>A | NP_001121681.1:n.1-1G>A | |
NM_172244.3:c.4-1G>A | NP_758447.1:n.4-1G>A | |
NM_000337.6:c.4-1G>A MANE Select | NP_000328.2:n.4-1G>A |