HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128846049G>C , CM000669.2:g.128846049G>C | GRCh38 |
NC_000007.13:g.128486103G>C , CM000669.1:g.128486103G>C | GRCh37 |
NC_000007.12:g.128273339G>C | NCBI36 |
NG_011807.1:g.20621G>C , LRG_870:g.20621G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000325888.13:c.3850G>C MANE Select | ENSP00000327145.8:p.Gly1284Arg | |
ENST00000325888.12:c.3850G>C | ENSP00000327145.8:p.Gly1284Arg | |
ENST00000346177.6:c.3850G>C | ENSP00000344002.6:p.Gly1284Arg | |
NM_001127487.1:c.3850G>C | NP_001120959.1:p.Gly1284Arg | |
NM_001458.4:c.3850G>C , LRG_870t1:c.3850G>C | NP_001449.3:p.Gly1284Arg | |
NM_001127487.2:c.3850G>C | NP_001120959.1:p.Gly1284Arg | |
NM_001458.5:c.3850G>C MANE Select | NP_001449.3:p.Gly1284Arg |