HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001282T>C , CM000683.2:g.46001282T>C | GRCh38 |
NC_000021.8:g.47421196T>C , CM000683.1:g.47421196T>C | GRCh37 |
NC_000021.7:g.46245624T>C | NCBI36 |
NG_008674.1:g.24534T>C , LRG_475:g.24534T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.251T>C | ||
ENST00000361866.8:c.1852T>C MANE Select | ENSP00000355180.3:p.Phe618Leu | |
ENST00000361866.7:c.1852T>C | ENSP00000355180.3:p.Phe618Leu | |
ENST00000463060.5:n.251T>C | ||
ENST00000498614.5:n.86T>C | ||
ENST00000612273.1:c.1846T>C | ENSP00000483630.1:p.Phe616Leu | |
NM_001848.2:c.1852T>C , LRG_475t1:c.1852T>C | NP_001839.2:p.Phe618Leu | |
NM_001848.3:c.1852T>C MANE Select | NP_001839.2:p.Phe618Leu |