HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189003002T>C , CM000664.2:g.189003002T>C | GRCh38 |
NC_000002.11:g.189867728T>C , CM000664.1:g.189867728T>C | GRCh37 |
NC_000002.10:g.189575973T>C | NCBI36 |
NG_007404.1:g.33630T>C , LRG_3:g.33630T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2394T>C | ENSP00000415346.2:p.Gly798= | |
ENST00000304636.9:c.2493T>C MANE Select | ENSP00000304408.4:p.Gly831= | |
ENST00000304636.7:c.2493T>C | ENSP00000304408.3:p.Gly831= | |
ENST00000317840.9:c.2493T>C | ENSP00000315243.6:p.Gly831= | |
NM_000090.3:c.2493T>C , LRG_3t1:c.2493T>C | NP_000081.1:p.Gly831= | |
NM_000090.4:c.2493T>C MANE Select | NP_000081.2:p.Gly831= |