HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475200G>C , CM000685.2:g.134475200G>C | GRCh38 |
NC_000023.10:g.133609230G>C , CM000685.1:g.133609230G>C | GRCh37 |
NC_000023.9:g.133436896G>C | NCBI36 |
NG_012329.1:g.20056G>C | |
NG_012329.2:g.20056G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298556.8:c.154G>C MANE Select | ENSP00000298556.7:p.Asp52His | |
ENST00000298556.7:c.154G>C | ENSP00000298556.7:p.Asp52His | |
ENST00000462974.5:n.312G>C | ||
ENST00000475720.1:n.112G>C | ||
NM_000194.2:c.154G>C | NP_000185.1:p.Asp52His | |
XM_011531328.1:c.172G>C | XP_011529630.1:p.Asp58His | |
NM_000194.3:c.154G>C MANE Select | NP_000185.1:p.Asp52His |