HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88720079C>A , CM000678.2:g.88720079C>A | GRCh38 |
NC_000016.9:g.88786487C>A , CM000678.1:g.88786487C>A | GRCh37 |
NC_000016.8:g.87313988C>A | NCBI36 |
NG_042229.1:g.70142G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6154G>T MANE Select | ENSP00000301015.9:p.Val2052Phe | |
ENST00000466823.3:c.180G>T | ||
ENST00000301015.13:c.6154G>T | ENSP00000301015.9:p.Val2052Phe | |
ENST00000466823.2:c.180G>T | ||
ENST00000495568.7:n.395G>T | ||
ENST00000497793.2:n.309G>T | ||
NM_001142864.2:c.6154G>T | NP_001136336.2:p.Val2052Phe | |
NM_001142864.3:c.6154G>T | NP_001136336.2:p.Val2052Phe | |
NM_001142864.4:c.6154G>T MANE Select | NP_001136336.2:p.Val2052Phe |