HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119413870G>C , CM000665.2:g.119413870G>C | GRCh38 |
NC_000003.11:g.119132717G>C , CM000665.1:g.119132717G>C | GRCh37 |
NC_000003.10:g.120615407G>C | NCBI36 |
NG_007665.2:g.124498G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264245.9:c.1941G>C MANE Select | ENSP00000264245.4:p.Leu647= | |
ENST00000264245.8:c.1941G>C | ENSP00000264245.4:p.Leu647= | |
NM_020754.3:c.1941G>C | NP_065805.2:p.Leu647= | |
XM_005247671.3:c.1848G>C | XP_005247728.1:p.Leu616= | |
XM_006713714.2:c.1881G>C | XP_006713777.1:p.Leu627= | |
XM_006713714.3:c.1881G>C | XP_006713777.1:p.Leu627= | |
XM_017006955.1:c.1449G>C | XP_016862444.1:p.Leu483= | |
NM_020754.4:c.1941G>C MANE Select | NP_065805.2:p.Leu647= |