HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127853962G= , CM000671.2:g.127853962G= | GRCh38 |
NC_000009.11:g.130616241G= , CM000671.1:g.130616241G= | GRCh37 |
NC_000009.10:g.129656062G= | NCBI36 |
NG_009551.1:g.5807C= , LRG_589:g.5807C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373203.9:c.67+327C= MANE Select | ENSP00000362299.4:n.67+327C= | |
ENST00000344849.4:c.67+327C= | ENSP00000341917.3:n.67+327C= | |
ENST00000373203.8:c.67+327C= | ENSP00000362299.4:n.67+327C= | |
NM_000118.3:c.67+327C= , LRG_589t1:c.67+327C= | NP_000109.1:n.67+327C= | |
NM_001114753.2:c.67+327C= , LRG_589t2:c.67+327C= | NP_001108225.1:n.67+327C= | |
NM_001114753.3:c.67+327C= MANE Select | NP_001108225.1:n.67+327C= |