HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233618520C>T , CM000664.2:g.233618520C>T | GRCh38 |
NC_000002.11:g.234527166C>T , CM000664.1:g.234527166C>T | GRCh37 |
NC_000002.10:g.234191905C>T | NCBI36 |
NG_002601.2:g.33777C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373450.5:c.813C>T MANE Select | ENSP00000362549.4:p.Phe271= | |
ENST00000373450.4:c.813C>T | ENSP00000362549.4:p.Phe271= | |
NM_019076.4:c.813C>T | NP_061949.3:p.Phe271= | |
NM_019076.5:c.813C>T MANE Select | NP_061949.3:p.Phe271= |