HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20756780C>G , CM000686.2:g.20756780C>G | GRCh38 |
NC_000024.9:g.22918666C>G , CM000686.1:g.22918666C>G | GRCh37 |
NC_000024.8:g.21328054C>G | NCBI36 |
NG_032924.1:g.5713C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000629237.2:c.6C>G MANE Select | ENSP00000486252.1:p.Ala2= | |
ENST00000629237.1:c.6C>G | ENSP00000486252.1:p.Ala2= | |
NM_001039567.2:c.6C>G | NP_001034656.1:p.Ala2= | |
NM_001039567.3:c.6C>G MANE Select | NP_001034656.1:p.Ala2= |