HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126803T>G , CM000681.2:g.9126803T>G | GRCh38 |
NC_000019.9:g.9237479T>G , CM000681.1:g.9237479T>G | GRCh37 |
NC_000019.8:g.9098479T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.148A>C MANE Select | ENSP00000302867.2:p.Asn50His | |
NM_001001958.1:c.148A>C MANE Select | NP_001001958.1:p.Asn50His |