HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189006964G>C , CM000664.2:g.189006964G>C | GRCh38 |
NC_000002.11:g.189871690G>C , CM000664.1:g.189871690G>C | GRCh37 |
NC_000002.10:g.189579935G>C | NCBI36 |
NG_007404.1:g.37592G>C , LRG_3:g.37592G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3130G>C | ENSP00000415346.2:p.Gly1044Arg | |
ENST00000304636.9:c.3229G>C MANE Select | ENSP00000304408.4:p.Gly1077Arg | |
ENST00000304636.7:c.3229G>C | ENSP00000304408.3:p.Gly1077Arg | |
ENST00000317840.9:c.2528-1090G>C | ENSP00000315243.6:n.2528-1090G>C | |
NM_000090.3:c.3229G>C , LRG_3t1:c.3229G>C | NP_000081.1:p.Gly1077Arg | |
NM_000090.4:c.3229G>C MANE Select | NP_000081.2:p.Gly1077Arg |