HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636490T>C , CM000681.2:g.49636490T>C | GRCh38 |
NC_000019.9:g.50139747T>C , CM000681.1:g.50139747T>C | GRCh37 |
NC_000019.8:g.54831559T>C | NCBI36 |
NG_042222.1:g.8654A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.453+129A>G MANE Select | ENSP00000246792.2:n.453+129A>G | |
ENST00000246792.3:c.453+129A>G | ENSP00000246792.2:n.453+129A>G | |
ENST00000601532.1:n.593+129A>G | ||
NM_006270.3:c.453+129A>G | NP_006261.1:n.453+129A>G | |
NM_006270.4:c.453+129A>G | NP_006261.1:n.453+129A>G | |
NM_006270.5:c.453+129A>G MANE Select | NP_006261.1:n.453+129A>G |