HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24204604T>C , CM000668.2:g.24204604T>C | GRCh38 |
NC_000006.11:g.24204832T>C , CM000668.1:g.24204832T>C | GRCh37 |
NC_000006.10:g.24312811T>C | NCBI36 |
NG_012829.1:g.158449A>G | |
NG_012829.2:g.183689A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1023+398A>G MANE Select | ENSP00000367715.3:n.1023+398A>G | |
ENST00000378450.6:c.282+398A>G | ENSP00000367711.3:n.282+398A>G | |
ENST00000378454.7:c.1023+398A>G | ENSP00000367715.3:n.1023+398A>G | |
NM_001195610.1:c.1023+398A>G | NP_001182539.1:n.1023+398A>G | |
NM_016356.4:c.1023+398A>G | NP_057440.2:n.1023+398A>G | |
NM_016356.5:c.1023+398A>G MANE Select | NP_057440.2:n.1023+398A>G | |
NM_001195610.2:c.1023+398A>G | NP_001182539.1:n.1023+398A>G |