HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128849395A>C , CM000669.2:g.128849395A>C | GRCh38 |
NC_000007.13:g.128489449A>C , CM000669.1:g.128489449A>C | GRCh37 |
NC_000007.12:g.128276685A>C | NCBI36 |
NG_011807.1:g.23967A>C , LRG_870:g.23967A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000325888.13:c.5016A>C MANE Select | ENSP00000327145.8:p.Ala1672= | |
ENST00000325888.12:c.5016A>C | ENSP00000327145.8:p.Ala1672= | |
ENST00000346177.6:c.5016A>C | ENSP00000344002.6:p.Ala1672= | |
NM_001127487.1:c.5016A>C | NP_001120959.1:p.Ala1672= | |
NM_001458.4:c.5016A>C , LRG_870t1:c.5016A>C | NP_001449.3:p.Ala1672= | |
NM_001127487.2:c.5016A>C | NP_001120959.1:p.Ala1672= | |
NM_001458.5:c.5016A>C MANE Select | NP_001449.3:p.Ala1672= |