HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93101621C>A , CM000669.2:g.93101621C>A | GRCh38 |
NC_000007.13:g.92730934C>A , CM000669.1:g.92730934C>A | GRCh37 |
NC_000007.12:g.92568870C>A | NCBI36 |
NG_023419.1:g.21403G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379958.3:c.4477G>T MANE Select | ENSP00000369292.2:p.Val1493Phe | |
ENST00000379958.2:c.4477G>T | ENSP00000369292.2:p.Val1493Phe | |
ENST00000620985.4:c.4477G>T | ENSP00000484636.1:p.Val1493Phe | |
NM_001193307.1:c.4477G>T | NP_001180236.1:p.Val1493Phe | |
NM_017654.3:c.4477G>T | NP_060124.2:p.Val1493Phe | |
NM_017654.4:c.4477G>T MANE Select | NP_060124.2:p.Val1493Phe | |
NM_001193307.2:c.4477G>T | NP_001180236.1:p.Val1493Phe |