HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128837441A= , CM000669.2:g.128837441A= | GRCh38 |
NC_000007.13:g.128477495A= , CM000669.1:g.128477495A= | GRCh37 |
NC_000007.12:g.128264731A= | NCBI36 |
NG_011807.1:g.12013A= , LRG_870:g.12013A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.743A= MANE Select | ENSP00000327145.8:p.His248= | |
ENST00000325888.12:c.743A= | ENSP00000327145.8:p.His248= | |
ENST00000346177.6:c.743A= | ENSP00000344002.6:p.His248= | |
NM_001127487.1:c.743A= | NP_001120959.1:p.His248= | |
NM_001458.4:c.743A= , LRG_870t1:c.743A= | NP_001449.3:p.His248= | |
NM_001127487.2:c.743A= | NP_001120959.1:p.His248= | |
NM_001458.5:c.743A= MANE Select | NP_001449.3:p.His248= |