HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128848011C>T , CM000669.2:g.128848011C>T | GRCh38 |
NC_000007.13:g.128488065C>T , CM000669.1:g.128488065C>T | GRCh37 |
NC_000007.12:g.128275301C>T | NCBI36 |
NG_011807.1:g.22583C>T , LRG_870:g.22583C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.4523C>T MANE Select | ENSP00000327145.8:p.Ala1508Val | |
ENST00000325888.12:c.4523C>T | ENSP00000327145.8:p.Ala1508Val | |
ENST00000346177.6:c.4523C>T | ENSP00000344002.6:p.Ala1508Val | |
NM_001127487.1:c.4523C>T | NP_001120959.1:p.Ala1508Val | |
NM_001458.4:c.4523C>T , LRG_870t1:c.4523C>T | NP_001449.3:p.Ala1508Val | |
NM_001127487.2:c.4523C>T | NP_001120959.1:p.Ala1508Val | |
NM_001458.5:c.4523C>T MANE Select | NP_001449.3:p.Ala1508Val |