HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001281G>C , CM000683.2:g.46001281G>C | GRCh38 |
NC_000021.8:g.47421195G>C , CM000683.1:g.47421195G>C | GRCh37 |
NC_000021.7:g.46245623G>C | NCBI36 |
NG_008674.1:g.24533G>C , LRG_475:g.24533G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463060.6:n.250G>C | ||
ENST00000361866.8:c.1851G>C MANE Select | ENSP00000355180.3:p.Leu617= | |
ENST00000361866.7:c.1851G>C | ENSP00000355180.3:p.Leu617= | |
ENST00000463060.5:n.250G>C | ||
ENST00000498614.5:n.85G>C | ||
ENST00000612273.1:c.1845G>C | ENSP00000483630.1:p.Leu615= | |
NM_001848.2:c.1851G>C , LRG_475t1:c.1851G>C | NP_001839.2:p.Leu617= | |
NM_001848.3:c.1851G>C MANE Select | NP_001839.2:p.Leu617= |