HGVS | Genome Assembly |
---|---|
NC_000006.12:g.167341079G>T , CM000668.2:g.167341079G>T | GRCh38 |
NC_000006.11:g.167754567G>T , CM000668.1:g.167754567G>T | GRCh37 |
NC_000006.10:g.167674557G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239587.10:c.1179G>T MANE Select | ENSP00000239587.5:p.Leu393Phe | |
ENST00000649884.1:c.960G>T | ENSP00000497040.1:p.Leu320Phe | |
ENST00000239587.9:c.1179G>T | ENSP00000239587.5:p.Leu393Phe | |
ENST00000515138.1:c.1179G>T | ENSP00000424130.1:p.Leu393Phe | |
NM_031949.4:c.1179G>T | NP_114155.4:p.Leu393Phe | |
XM_006715572.2:c.960G>T | XP_006715635.1:p.Leu320Phe | |
XM_006715572.4:c.960G>T | XP_006715635.1:p.Leu320Phe | |
NM_031949.5:c.1179G>T MANE Select | NP_114155.4:p.Leu393Phe |