HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110170003C>A , CM000675.2:g.110170003C>A | GRCh38 |
NC_000013.10:g.110822350C>A , CM000675.1:g.110822350C>A | GRCh37 |
NC_000013.9:g.109620351C>A | NCBI36 |
NG_011544.2:g.142147G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.3743-241G>T MANE Select | ENSP00000364979.4:n.3743-241G>T | |
ENST00000375820.8:c.3743-241G>T | ENSP00000364979.4:n.3743-241G>T | |
NM_001845.5:c.3743-241G>T | NP_001836.3:n.3743-241G>T | |
XM_011521048.1:c.3551-241G>T | XP_011519350.1:n.3551-241G>T | |
XM_011521048.2:c.3551-241G>T | XP_011519350.1:n.3551-241G>T | |
NM_001845.6:c.3743-241G>T MANE Select | NP_001836.3:n.3743-241G>T |