HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176118966C>T , CM000664.2:g.176118966C>T | GRCh38 |
NC_000002.11:g.176983694C>T , CM000664.1:g.176983694C>T | GRCh37 |
NC_000002.10:g.176691940C>T | NCBI36 |
NG_008133.2:g.12203C>T , LRG_246:g.12203C>T | |
NG_009225.1:g.1282C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000249501.5:c.758C>T MANE Select | ENSP00000249501.4:p.Ser253Phe | |
ENST00000249501.4:c.758C>T | ENSP00000249501.4:p.Ser253Phe | |
ENST00000490088.2:n.582C>T | ||
ENST00000549469.1:n.629C>T | ||
NM_002148.3:c.758C>T , LRG_246t1:c.758C>T | NP_002139.2:p.Ser253Phe | |
NM_002148.4:c.758C>T MANE Select | NP_002139.2:p.Ser253Phe |