HGVS | Genome Assembly |
---|---|
NC_000004.12:g.70642594A>C , CM000666.2:g.70642594A>C | GRCh38 |
NC_000004.11:g.71508311A>C , CM000666.1:g.71508311A>C | GRCh37 |
NC_000004.10:g.71727175A>C | NCBI36 |
NG_013024.1:g.18851A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000396073.4:c.1168A>C MANE Select | ENSP00000379383.4:p.Asn390His | |
ENST00000396073.3:c.1168A>C | ENSP00000379383.3:p.Asn390His | |
ENST00000472903.5:n.99+4751A>C | ||
NM_031889.2:c.1168A>C | NP_114095.2:p.Asn390His | |
XM_006714056.2:c.1168A>C | XP_006714119.1:p.Asn390His | |
XM_006714056.4:c.1168A>C | XP_006714119.1:p.Asn390His | |
NM_001368133.1:c.514A>C | NP_001355062.1:p.Asn172His | |
NM_031889.3:c.1168A>C MANE Select | NP_114095.2:p.Asn390His |