HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186284214A>C , CM000666.2:g.186284214A>C | GRCh38 |
NC_000004.11:g.187205368A>C , CM000666.1:g.187205368A>C | GRCh37 |
NC_000004.10:g.187442362A>C | NCBI36 |
NG_008051.1:g.23251A>C , LRG_583:g.23251A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403665.7:c.1258A>C MANE Select | ENSP00000384957.2:p.Ile420Leu | |
ENST00000264692.8:c.1096A>C | ENSP00000264692.5:p.Ile366Leu | |
ENST00000403665.6:c.1258A>C | ENSP00000384957.2:p.Ile420Leu | |
NM_000128.3:c.1258A>C , LRG_583t1:c.1258A>C | NP_000119.1:p.Ile420Leu | |
XM_005262821.2:c.1261A>C | XP_005262878.1:p.Ile421Leu | |
XM_005262822.2:c.1261A>C | XP_005262879.1:p.Ile421Leu | |
XM_005262823.2:c.991A>C | XP_005262880.1:p.Ile331Leu | |
XM_005262824.1:c.1261A>C | XP_005262881.1:p.Ile421Leu | |
XM_006714137.1:c.1213A>C | XP_006714200.1:p.Ile405Leu | |
XR_938706.1:n.1666A>C | ||
XR_938707.1:n.1666A>C | ||
XM_005262821.4:c.1261A>C | XP_005262878.1:p.Ile421Leu | |
XM_005262822.4:c.1261A>C | XP_005262879.1:p.Ile421Leu | |
XM_005262823.4:c.991A>C | XP_005262880.1:p.Ile331Leu | |
XM_006714137.3:c.1213A>C | XP_006714200.1:p.Ile405Leu | |
XR_001741172.2:n.1732A>C | ||
NM_000128.4:c.1258A>C MANE Select | NP_000119.1:p.Ile420Leu |