HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24261830T>G , CM000676.2:g.24261830T>G | GRCh38 |
NC_000014.8:g.24731036T>G , CM000676.1:g.24731036T>G | GRCh37 |
NC_000014.7:g.23800876T>G | NCBI36 |
NG_007150.1:g.6337A>C | |
NG_007150.2:g.6337A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.373A>C MANE Select | ENSP00000206765.6:p.Asn125His | |
ENST00000206765.10:c.373A>C | ENSP00000206765.6:p.Asn125His | |
ENST00000544573.5:c.-29+297A>C | ENSP00000439446.1:n.-29+297A>C | |
ENST00000558074.1:c.373A>C | ENSP00000453840.1:p.Asn125His | |
NM_000359.2:c.373A>C | NP_000350.1:p.Asn125His | |
NM_000359.3:c.373A>C MANE Select | NP_000350.1:p.Asn125His |