HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636567A>G , CM000681.2:g.49636567A>G | GRCh38 |
NC_000019.9:g.50139824A>G , CM000681.1:g.50139824A>G | GRCh37 |
NC_000019.8:g.54831636A>G | NCBI36 |
NG_042222.1:g.8577T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000246792.4:c.453+52T>C MANE Select | ENSP00000246792.2:n.453+52T>C | |
ENST00000246792.3:c.453+52T>C | ENSP00000246792.2:n.453+52T>C | |
ENST00000601532.1:n.593+52T>C | ||
NM_006270.3:c.453+52T>C | NP_006261.1:n.453+52T>C | |
NM_006270.4:c.453+52T>C | NP_006261.1:n.453+52T>C | |
NM_006270.5:c.453+52T>C MANE Select | NP_006261.1:n.453+52T>C |