HGVS | Genome Assembly |
---|---|
NC_000006.12:g.167341134A>C , CM000668.2:g.167341134A>C | GRCh38 |
NC_000006.11:g.167754622A>C , CM000668.1:g.167754622A>C | GRCh37 |
NC_000006.10:g.167674612A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239587.10:c.1234A>C MANE Select | ENSP00000239587.5:p.Ile412Leu | |
ENST00000649884.1:c.1015A>C | ENSP00000497040.1:p.Ile339Leu | |
ENST00000239587.9:c.1234A>C | ENSP00000239587.5:p.Ile412Leu | |
ENST00000515138.1:c.1234A>C | ENSP00000424130.1:p.Ile412Leu | |
NM_031949.4:c.1234A>C | NP_114155.4:p.Ile412Leu | |
XM_006715572.2:c.1015A>C | XP_006715635.1:p.Ile339Leu | |
XM_006715572.4:c.1015A>C | XP_006715635.1:p.Ile339Leu | |
NM_031949.5:c.1234A>C MANE Select | NP_114155.4:p.Ile412Leu |