HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128847990A>T , CM000669.2:g.128847990A>T | GRCh38 |
NC_000007.13:g.128488044A>T , CM000669.1:g.128488044A>T | GRCh37 |
NC_000007.12:g.128275280A>T | NCBI36 |
NG_011807.1:g.22562A>T , LRG_870:g.22562A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.4502A>T MANE Select | ENSP00000327145.8:p.His1501Leu | |
ENST00000325888.12:c.4502A>T | ENSP00000327145.8:p.His1501Leu | |
ENST00000346177.6:c.4502A>T | ENSP00000344002.6:p.His1501Leu | |
NM_001127487.1:c.4502A>T | NP_001120959.1:p.His1501Leu | |
NM_001458.4:c.4502A>T , LRG_870t1:c.4502A>T | NP_001449.3:p.His1501Leu | |
NM_001127487.2:c.4502A>T | NP_001120959.1:p.His1501Leu | |
NM_001458.5:c.4502A>T MANE Select | NP_001449.3:p.His1501Leu |