HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192179A= , CM000671.2:g.137192179A= | GRCh38 |
NC_000009.11:g.140086631A= , CM000671.1:g.140086631A= | GRCh37 |
NC_000009.10:g.139206452A= | NCBI36 |
NG_027801.1:g.13533T= | |
NG_027801.2:g.17015T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2074-5T= MANE Select | ENSP00000387100.4:n.2074-5T= | |
ENST00000333046.8:c.1547T= | ENSP00000327617.4:p.Phe516= | |
ENST00000409012.4:c.2074-5T= | ENSP00000387100.4:n.2074-5T= | |
ENST00000477345.1:n.2795-5T= | ||
NM_001128228.2:c.2074-5T= | NP_001121700.2:n.2074-5T= | |
NM_001128228.3:c.2074-5T= MANE Select | NP_001121700.2:n.2074-5T= |