HGVS | Genome Assembly |
---|---|
NC_000017.11:g.18148570T>A , CM000679.2:g.18148570T>A | GRCh38 |
NC_000017.10:g.18051884T>A , CM000679.1:g.18051884T>A | GRCh37 |
NC_000017.9:g.17992609T>A | NCBI36 |
NG_011634.1:g.44865T>A | |
NG_011634.2:g.44865T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647165.2:c.6764+2T>A MANE Select | ENSP00000495481.1:n.6764+2T>A | |
ENST00000205890.9:c.6764+2T>A | ENSP00000205890.5:n.6764+2T>A | |
ENST00000578999.1:n.277-191T>A | ||
ENST00000615845.4:c.6764+2T>A | ENSP00000481642.1:n.6764+2T>A | |
NM_016239.3:c.6764+2T>A | NP_057323.3:n.6764+2T>A | |
XM_011523917.1:c.6631+360T>A | XP_011522219.1:n.6631+360T>A | |
XM_011523921.1:c.6758+2T>A | XP_011522223.1:n.6758+2T>A | |
XR_934037.1:n.7290+360T>A | ||
XR_934038.1:n.7290+360T>A | ||
XR_934293.1:n.435-964A>T | ||
XR_934295.1:n.254-964A>T | ||
XM_017024714.2:c.6704+2T>A | XP_016880203.1:n.6704+2T>A | |
XM_017024715.2:c.6767+2T>A | XP_016880204.1:n.6767+2T>A | |
XR_934293.2:n.378-964A>T | ||
NM_016239.4:c.6764+2T>A MANE Select | NP_057323.3:n.6764+2T>A |