HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24204713T>G , CM000668.2:g.24204713T>G | GRCh38 |
NC_000006.11:g.24204941T>G , CM000668.1:g.24204941T>G | GRCh37 |
NC_000006.10:g.24312920T>G | NCBI36 |
NG_012829.1:g.158340A>C | |
NG_012829.2:g.183580A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1023+289A>C MANE Select | ENSP00000367715.3:n.1023+289A>C | |
ENST00000378450.6:c.282+289A>C | ENSP00000367711.3:n.282+289A>C | |
ENST00000378454.7:c.1023+289A>C | ENSP00000367715.3:n.1023+289A>C | |
NM_001195610.1:c.1023+289A>C | NP_001182539.1:n.1023+289A>C | |
NM_016356.4:c.1023+289A>C | NP_057440.2:n.1023+289A>C | |
NM_016356.5:c.1023+289A>C MANE Select | NP_057440.2:n.1023+289A>C | |
NM_001195610.2:c.1023+289A>C | NP_001182539.1:n.1023+289A>C |