HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636578C>G , CM000681.2:g.49636578C>G | GRCh38 |
NC_000019.9:g.50139835C>G , CM000681.1:g.50139835C>G | GRCh37 |
NC_000019.8:g.54831647C>G | NCBI36 |
NG_042222.1:g.8566G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000246792.4:c.453+41G>C MANE Select | ENSP00000246792.2:n.453+41G>C | |
ENST00000246792.3:c.453+41G>C | ENSP00000246792.2:n.453+41G>C | |
ENST00000601532.1:n.593+41G>C | ||
NM_006270.3:c.453+41G>C | NP_006261.1:n.453+41G>C | |
NM_006270.4:c.453+41G>C | NP_006261.1:n.453+41G>C | |
NM_006270.5:c.453+41G>C MANE Select | NP_006261.1:n.453+41G>C |