HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186284121G>A , CM000666.2:g.186284121G>A | GRCh38 |
NC_000004.11:g.187205275G>A , CM000666.1:g.187205275G>A | GRCh37 |
NC_000004.10:g.187442269G>A | NCBI36 |
NG_008051.1:g.23158G>A , LRG_583:g.23158G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403665.7:c.1165G>A MANE Select | ENSP00000384957.2:p.Val389Ile | |
ENST00000264692.8:c.1003G>A | ENSP00000264692.5:p.Val335Ile | |
ENST00000403665.6:c.1165G>A | ENSP00000384957.2:p.Val389Ile | |
NM_000128.3:c.1165G>A , LRG_583t1:c.1165G>A | NP_000119.1:p.Val389Ile | |
XM_005262821.2:c.1168G>A | XP_005262878.1:p.Val390Ile | |
XM_005262822.2:c.1168G>A | XP_005262879.1:p.Val390Ile | |
XM_005262823.2:c.898G>A | XP_005262880.1:p.Val300Ile | |
XM_005262824.1:c.1168G>A | XP_005262881.1:p.Val390Ile | |
XM_006714137.1:c.1120G>A | XP_006714200.1:p.Val374Ile | |
XR_938706.1:n.1573G>A | ||
XR_938707.1:n.1573G>A | ||
XM_005262821.4:c.1168G>A | XP_005262878.1:p.Val390Ile | |
XM_005262822.4:c.1168G>A | XP_005262879.1:p.Val390Ile | |
XM_005262823.4:c.898G>A | XP_005262880.1:p.Val300Ile | |
XM_006714137.3:c.1120G>A | XP_006714200.1:p.Val374Ile | |
XM_017007884.2:c.*2137G>A | XP_016863373.1:n.*2137G>A | |
XM_017007885.2:c.*33G>A | XP_016863374.1:n.*33G>A | |
XR_001741172.2:n.1639G>A | ||
NM_000128.4:c.1165G>A MANE Select | NP_000119.1:p.Val389Ile |