HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202530810A>T , CM000664.2:g.202530810A>T | GRCh38 |
NC_000002.11:g.203395533A>T , CM000664.1:g.203395533A>T | GRCh37 |
NC_000002.10:g.203103778A>T | NCBI36 |
NG_009363.1:g.159484A>T , LRG_712:g.159484A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.984A>T MANE Select | ENSP00000363708.4:p.Ala328= | |
ENST00000638587.1:c.915A>T | ENSP00000491062.1:p.Ala305= | |
ENST00000374574.2:c.984A>T | ENSP00000363702.2:p.Ala328= | |
ENST00000374580.8:c.984A>T | ENSP00000363708.4:p.Ala328= | |
NM_001204.6:c.984A>T , LRG_712t1:c.984A>T | NP_001195.2:p.Ala328= | |
XM_011511687.1:c.984A>T | XP_011509989.1:p.Ala328= | |
XM_011511688.1:c.984A>T | XP_011509990.1:p.Ala328= | |
NM_001204.7:c.984A>T MANE Select | NP_001195.2:p.Ala328= |