HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114863A>C , CM000667.2:g.140114863A>C | GRCh38 |
NC_000005.9:g.139494448A>C , CM000667.1:g.139494448A>C | GRCh37 |
NC_000005.8:g.139474632A>C | NCBI36 |
NG_041813.1:g.5741A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.682A>C MANE Select | ENSP00000332706.3:p.Asn228His | |
ENST00000651386.1:c.682A>C | ENSP00000499133.1:p.Asn228His | |
ENST00000331327.4:c.682A>C | ENSP00000332706.3:p.Asn228His | |
NM_005859.4:c.682A>C | NP_005850.1:p.Asn228His | |
NM_005859.5:c.682A>C MANE Select | NP_005850.1:p.Asn228His |